公开/公告号CN1920013A
专利类型发明专利
公开/公告日2007-02-28
原文格式PDF
申请/专利权人 首都医科大学附属北京口腔医院;北京诺赛基因组研究中心有限公司;
申请/专利号CN200610003162.6
申请日2006-02-20
分类号C12N5/12;C07K14/435;C12Q1/68;C07K16/18;
代理机构北京三高永信知识产权代理有限责任公司;
代理人何文彬
地址 100050 北京市崇文区天坛西里4号
入库时间 2023-12-17 18:21:01
法律状态公告日
法律状态信息
法律状态
2015-04-08
未缴年费专利权终止 IPC(主分类):C12N5/12 授权公告日:20110824 终止日期:20140220 申请日:20060220
专利权的终止
2011-08-24
授权
授权
2007-04-25
实质审查的生效
实质审查的生效
2007-02-28
公开
公开
技术领域
本发明涉及一种痣样基底细胞癌综合征(NBCCS)致病基因和该基因编码蛋白质分子的序列。本发明还涉及痣样基底细胞癌综合征致病基因检测方法和检测试剂盒。
背景技术
痣样基底细胞癌综合征(NBCCS)又称颌骨囊肿-基底细胞癌-肋骨分叉综合征或Gorlin综合征，主要临床特点是多发性基底细胞癌、多发性牙源性角化囊肿、骨骼畸形和成神经管细胞瘤等。NBCCS的发病率大概为1/57000，临床上多以颌骨角化囊肿和皮肤基底细胞癌就诊于口腔颌面外科或皮肤科。NBCCS多数有家族史，有明显的遗传倾向，从遗传学上分析遗传性NBCCS是一种常染色体显性遗传病。
因此，对NBCCS基因和该基因编码蛋白质分子的序列进行系统的研究，将对遗传疾病的诊断治疗具有十分重要的和深远的意义。
发明内容
本发明克隆了NBCCS致病基因即定位于1p32.3～1p34.1区段的PTCH2基因，确定了该基因的突变位点，并进行了初步的结构和功能的研究。
进一步，本发明揭示了NBCCS发病的分子遗传学基础，为基因诊断、药物设计和临床治疗提供了基因学的依据。
还进一步，本发明提供了一种检测、分析DNA样品中是否具有NBCCS致病基因和进行初步的结构及其功能域研究的方法，为进一步的研究奠定了基础。
因此，本发明的一个目的是提供痣样基底细胞癌综合征(NBCCS)致病基因，该基因的核苷酸序列如SEQ ID NO：1所示，或SEQ ID NO：1的同源序列，或SEQ ID NO：1的变构体。
SEQ ID NO：1的变构体可以如SEQ ID NO：5，SEQ ID NO：9，或SEQ ID NO：13所示。
本发明还提供了痣样基底细胞癌综合征(NBCCS)致病基因编码的蛋白质，其氨基酸序列如SEQ ID NO：2，SEQ ID NO：6，SEQ ID NO：10，或SEQ ID NO：14所示。
本发明的另一个目的是提供突变的痣样基底细胞癌综合征(NBCCS)致病基因，该基因的核苷酸序列如SEQ ID NO：3所示，或SEQ ID NO：3的同源序列，或SEQ ID NO：3的变构体。其中突变发生在编码区第2156位碱基，为G→A突变，编码的719位氨基酸由精氨酸突变为谷氨酰胺。
SEQ ID NO：3的变构体可以如SEQ ID NO：7，SEQ ID NO：11，或SEQ ID NO：15所示。
突变发生在15号外显子，其核苷酸序列如SEQ ID NO：19所示，对应的正常基因序列为SEQ ID NO：17。
本发明还提供了突变的痣样基底细胞癌综合征(NBCCS)致病基因编码的蛋白，其氨基酸序列如SEQ ID NO：4，SEQ ID NO：8，SEQ IDNO：12或SEQ ID NO：16所示。
本发明还提供了一种体外检测痣样基底细胞癌综合征(NBCCS)致病基因突变的方法，该方法包括：
A：针对痣样基底细胞癌综合征(NBCCS)致病基因设计引物，进行PCR扩增；
B：对所述PCR产物进行分析；
C：鉴定痣样基底细胞癌综合征(NBCCS)致病基因编码区2156G/A位点是否为G。
分析方法可以采用PCR(聚合酶链反应)与直接测序法的结合，或者采用针对突变位点设计的寡核苷酸探针，或者采用PCR与限制性片段长度多态方法的结合。选择可特异酶切突变序列处野生型序列的限制性内切酶Ava I对患者和正常对照的PTCH2exon15进行酶切，正常对照408bp的样本DNA被切为128和280bp两段，而NBCCS患者的PTCH2exon15样本DNA由408bp被切为128，280和408bp三段。
本发明的再一个目的是提供检测痣样基底细胞癌综合征(NBCCS)致病基因突变的试剂盒，该试剂盒包括：
A：用于扩增痣样基底细胞癌综合征(NBCCS)致病基因的引物；
B：PCR扩增酶和相应缓冲液；
C：检测该基因15号外显子突变的试剂。
所述试剂可以是用荧光素、放射性同位素、酶等标记的核酸探针，或者是直接测序的试剂，或者是限制性内切酶。所述探针该例如可以含有与SEQ ID No：1或3的部分核苷酸序列互补的核苷酸序列，所述部分核苷酸序列是一种至少包括编码区第2156位碱基，并且具有至少15到300个碱基的DNA片段。
本发明的又一个目的是提供用于检测痣样基底细胞癌综合征(NBCCS)致病基因突变的探针，该探针含有与SEQ ID No：1或3的部分核苷酸序列互补的核苷酸序列，所述部分核苷酸序列是一种至少包括编码区第2156位碱基，并且具有至少15到300个碱基的DNA片段。
本发明的一个目的是针对痣样基底细胞癌综合征(NBCCS)致病基因或其突变基因编码的蛋白的抗体。
本发明的痣样基底细胞癌综合征(NBCCS)致病基因或其突变基因的发现，为治疗痣样基底细胞癌综合征(NBCCS)提供了新的手段，例如，可以将正常基因导入突变细胞内，进行基因治疗。
附图简述
以下将通过附图对本发明的有关内容作进一步的说明。
图1为NBCCS的临床及病理照片；图1-a：颌骨多发性牙源性角化囊肿，图1-b：分叉肋，图1-c：手足斑疹，图1-d：痣样基底细胞癌。
图2为Exon15的PCR产物胶图；右数第3列为DL 2000Ladder。
图3为酶切胶图，左、右数第1列均为DL 2000Ladder。
图4为带突变基因和带野生型基因的细胞的增殖结果，显示突变基因的细胞较对照增殖增多，而野生型则抑制细胞增殖。
图5为野生型和突变型基因抑制下游基因的功能的对比，发现与野生型相比，突变型失去了该基因正常情况下抑制下游基因的功能。
图6为测序反应条件。
具体实施方式
1、NBCCS致病基因的克隆
发明人对采集到的NBCCS家系共9名患者，利用连锁分析成功地将NBCCS致病基因定位于1p32.3～1p34.1；利用临床检查及资料分析符合NBCCS特征的描述。
由图1可见，NBCCS特征是颌骨多发性牙源性角化囊肿(图1-a)，分叉肋(图1-b)，手足斑疹(图1-c)，以及痣样基底细胞癌(图1-d)的病理结果。
在上述研究的基础上，发明人利用常规的PCR扩增候选基因DNA和DNA测序分析等技术，成功地克隆了NBCCS基因，发现定位于1p32.3～1p34.1区段PTCH2基因就是NBCCS致病基因。正是由于PTCH2基因发生了突变，导致了NBCCS的发病。突变发生在PTCH2基因的exon15(15号外显子)编码区内，并在该家系所有患者的DNA样品上得到了验证。发明人通过PCR扩增，产物纯化，测序的方法获得exon15序列，具体方法步骤如下：
PCR反应体系：(体系各项试剂除DNA外均由美国PE公司提供，后同)
ddH2O 7.08μl
Buffer 1.5μl
MgCl2 0.9μl
Q液 3μl
dNTPs 1.2μl
基因组DNA 0.6μl
Hot star Taq 0.12μl
左向引物 0.3μl
右向引物 0.3μl
PCR反应总体积 15μl
左向引物序列：ggtgctctttggtgctcttc
右向引物序列：gggagaccaggatagggttc
PCR反应条件：(Touch-down PCR)
1.95℃ 15’
2.95℃ 30”
3.64℃ 1’
4.72℃ 1’50”
5.Go To Step 2，前12个循环退火温度每次递减0.5℃，后28个循环退火温度固定为57-59℃30秒
6.72℃ 10’
7.4℃ 保持
1％琼脂糖凝胶检查，胶图见附图2。
以上PCR反应均采用96孔板，在Perkin Elmer 9600或9700热循环仪上进行PCR反应，胶图照片采用Bio-Rad公司Gel-Doc摄像仪摄取。
PTCH2基因PCR扩增产物测序：
采用millipore公司的96孔纯化板进行纯化，按说明书操作
测序反应体系：
ddH2O补齐至10μl。
测序反应条件见图6。
测序反应产物的纯化
1)每孔加入60μl 75％乙醇，votex混匀30秒
2)4000RPM离心30分钟，甩掉上清
3)每孔加入100μl75％乙醇，4000RPM离心10分钟，甩掉上清
4)重复C步骤
5)倒置于吸水纸上，离心至300RPM停止
6)置于真空干燥器低温抽吸干燥4分钟
7)上样前每孔加20μl ddH2O(3700测序仪)
2、NBCCS致病基因突变的检测
选择可特异酶切突变序列处野生型序列的限制性内切酶Ava I对患者和正常对照的PTCH2exon15进行酶切，发现正常对照408bp的样本DNA被切为128和280bp两段(图3右数第2、3列)，而NBCCS患者的PTCH2exon15样本DNA由408bp被切为128，280和408bp三段(图3左数第2-7列)，表明患者为杂合突变，突变序列未被切开。
酶切体系20μl：
PTCH2exon15 8μl
10×Buffer 2μl
BSA 0.2μl
限制性内切酶 1μl
ddH2O 7.3μl
酶切胶图见附图3。
对与NBCCS发生相关的PTCH2基因的突变体的功能进行研究，将正常PTCH2cDNA进行诱变得到突变体，转化到NIH3T3细胞中，结果发现有突变基因的细胞较对照增殖增多，而野生型则抑制细胞增殖(附图4)。将突变基因转化入C3H10T1/2细胞中，发现与野生型相比，突变型失去了该基因正常情况下抑制下游基因的功能(附图5)。
我们推测野生型exon15突变后所编码的蛋白质可能由于氨基酸组成的改变，从而降低或改变了该蛋白质正常时所具有的生物活性，失去了该基因正常情况下抑制下游基因的功能，致使细胞增殖加快，向癌细胞转化，从而导致NBCCS的发生。
3、检测试剂盒的制备
A、试剂盒组成
引物：ggtgctctttggtgctcttc 0.3ul
gggagaccaggatagggttc 0.3ul
Hot star Taq酶 0.12ul
缓冲液 1.5ul
dNTP 1.2ul
限制性内切酶Ava I，
酶切图谱。
B、使用方法
1)采用上述PCR引物，Taq酶等进行PCR反应；
2)PCR反应产物经纯化后测序，将所得到的序列与正常基因序列对比确定突变是否存在；
3)限制性内切酶Ava I酶切PCR产物；
4)与试剂盒的酶切图比较。
Untitled[1][1][1].ST25痣样基底细胞癌综合征致病基因及其编码蛋白
序列表
<110>北京诺赛基因组研究中心有限公司
<120>一种痣样基底细胞癌综合征致病基因及其编码蛋白
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atccccgcca gc atg act cga tcg ccg ccc ctc aga gag ctg ccc ccg agt 51
Met Thr Arg Ser Pro Pro Leu Arg Glu Leu Pro Pro Ser
1 5 10
tac aca ccc cca gct cga acc gca gca ccc cag atc cta gct ggg agc 99
Tyr Thr Pro Pro Ala Arg Thr Ala Ala Pro Gln Ile Leu Ala Gly Ser
15 20 25
ctg aag gct cca ctc tgg ctt cgt gct tac ttc cag ggc ctg ctc ttc 147
Leu Lys Ala Pro Leu Trp Leu Arg Ala Tyr Phe Gln Gly Leu Leu Phe
30 35 40 45
tct ctg gga tgc ggg atc cag aga cat tgt ggc aaa gtg ctc ttt ctg 195
Ser Leu Gly Cys Gly Ile Gln Arg His Cys Gly Lys Val Leu Phe Leu
50 55 60
gga ctg ttg gcc ttt ggg gcc ctg gca tta ggt ctc cgc atg gcc att 243
Gly Leu Leu Ala Phe Gly Ala Leu Ala Leu Gly Leu Arg Met Ala Ile
65 70 75
att gag aca aac ttg gaa cag ctc tgg gta gaa gtg ggc agc cgg gtg 291
Ile Glu Thr Asn Leu Glu Gln Leu Trp Val Glu Val Gly Ser Arg Val
80 85 90
agc cag gag ctg cat tac acc aag gag aag ctg ggg gag gag gct gca 339
Ser Gln Glu Leu His Tyr Thr Lys Glu Lys Leu Gly Glu Glu Ala Ala
95 100 105
tac acc tct cag atg ctg ata cag acc gca cgc cag gag gga gag aac 387
Tyr Thr Ser Gln Met Leu Ile Gln Thr Ala Arg Gln Glu Gly Glu Asn
110 115 120 125
atc ctc aca ccc gaa gca ctt ggc ctc cac ctc cag gca gcc ctc act 435
Ile Leu Thr Pro Glu Ala Leu Gly Leu His Leu Gln Ala Ala Leu Thr
130 135 140
gcc agt aaa gtc caa gta tca ctc tat ggg aag tcc tgg gat ttg aac 483
Ala Ser Lys Val Gln Val Ser Leu Tyr Gly Lys Ser Trp Asp Leu Asn
145 150 155
aaa atc tgc tac aag tca gga gtt ccc ctt att gaa aat gga atg att 531
Lys Ile Cys Tyr Lys Ser Gly Val Pro Leu Ile Glu Asn Gly Met Ile
160 165 170
gag cgg atg att gag aag ctg ttt ccg tgc gtg atc ctc acc ccc ctc 579
Glu Arg Met Ile Glu Lys Leu Phe Pro Cys Val Ile Leu Thr Pro Leu
175 180 185
gac tgc ttc tgg gag gga gcc aaa ctc caa ggg ggc tcc gcc tac ctg 627
Asp Cys Phe Trp Glu Gly Ala Lys Leu Gln Gly Gly Ser Ala Tyr Leu
190 195 200 205
Untitled[1][1][1].ST25痣样基底细胞癌综合征致病基因及其编码蛋白
ccc ggc cgc ccg gat atc cag tgg acc aac ctg gat cca gag cag ctg 675
Pro Gly Arg Pro Asp Ile Gln Trp Thr Asn Leu Asp Pro Glu Gln Leu
210 215 220
ctg gag gag ctg ggt ccc ttt gcc tcc ctt gag ggc ttc cgg gag ctg 723
Leu Glu Glu Leu Gly Pro Phe Ala Ser Leu Glu Gly Phe Arg Glu Leu
225 230 235
cta gac aag gca cag gtg ggc cag gcc tac gtg ggg cgg ccc tgt ctg 771
Leu Asp Lys Ala Gln Val Gly Gln Ala Tyr Val Gly Arg Pro Cys Leu
240 245 250
cac cct gat gac ctc cac tgc cca cct agt gcc ccc aac cat cac agc 819
His Pro Asp Asp Leu His Cys Pro Pro Ser Ala Pro Asn His His Ser
255 260 265
agg cag gct ccc aat gtg gct cac gag ctg agt ggg ggc tgc cat ggc 867
Arg Gln Ala Pro Asn Val Ala His Glu Leu Ser Gly Gly Cys His Gly
270 275 280 285
ttc tcc cac aaa ttc atg cac tgg cag gag gaa ttg ctg ctg gga ggc 915
Phe Ser His Lys Phe Met His Trp Gln Glu Glu Leu Leu Leu Gly Gly
290 295 300
atg gcc aga gac ccc caa gga gag ctg ctg agg gca gag gcc ctg cag 963
Met Ala Arg Asp Pro Gln Gly Glu Leu Leu Arg Ala Glu Ala Leu Gln
305 310 315
agc acc ttc ttg ctg atg agt ccc cgc cag ctg tac gag cat ttc cgg 1011
Ser Thr Phe Leu Leu Met Ser Pro Arg Gln Leu Tyr Glu His Phe Arg
320 325 330
ggt gac tat cag aca cat gac att ggc tgg agt gag gag cag gcc agc 1059
Gly Asp Tyr Gln Thr His Asp Ile Gly Trp Ser Glu Glu Gln Ala Ser
335 340 345
aca gtg cta caa gcc tgg cag cgg cgc ttt gtg cag ctg gcc cag gag 1107
Thr Val Leu Gln Ala Trp Gln Arg Arg Phe Val Gln Leu Ala Gln Glu
350 355 360 365
gcc ctg cct gag aac gct tcc cag cag atc cat gcc ttc tcc tcc acc 1155
Ala Leu Pro Glu Asn Ala Ser Gln Gln Ile His Ala Phe Ser Ser Thr
370 375 380
acc ctg gat gac atc ctg cat gcg ttc tct gaa gtc agt gct gcc cgt 1203
Thr Leu Asp Asp Ile Leu His Ala Phe Ser Glu Val Ser Ala Ala Arg
385 390 395
gtg gtg gga ggc tat ctg ctc atg ctg gcc tat gcc tgt gtg acc atg 1251
Val Val Gly Gly Tyr Leu Leu Met Leu Ala Tyr Ala Cys Val Thr Met
400 405 410
ctg cgg tgg gac tgc gcc cag tcc cag ggt tcc gtg ggc ctt gcc ggg 1299
Leu Arg Trp Asp Cys Ala Gln Ser Gln Gly Ser Val Gly Leu Ala Gly
415 420 425
gta ctg ctg gtg gcc ctg gcg gtg gcc tca ggc ctt ggg ctc tgt gcc 1347
Val Leu Leu Val Ala Leu Ala Val Ala Ser Gly Leu Gly Leu Cys Ala
430 435 440 445
ctg ctc ggc atc acc ttc aat gct gcc act acc cag gtg ctg ccc ttc 1395
Leu Leu Gly Ile Thr Phe Asn Ala Ala Thr Thr Gln Val Leu Pro Phe
450 455 460
ttg gct ctg gga atc ggc gtg gat gac gta ttc ctg ctg gcg cat gcc 1443
Leu Ala Leu Gly Ile Gly Val Asp Asp Val Phe Leu Leu Ala His Ala
465 470 475
ttc aca gag gct ctg cct ggc acc cct ctc cag gag cgc atg ggc gag 1491
Phe Thr Glu Ala Leu Pro Gly Thr Pro Leu Gln Glu Arg Met Gly Glu
480 485 490
tgt ctg cag cgc acg ggc acc agt gtc gta ctc aca tcc atc aac aac 1539
Cys Leu Gln Arg Thr Gly Thr Ser Val Val Leu Thr Ser Ile Asn Asn
495 500 505
Untitled[1][1][1].ST25痣样基底细胞癌综合征致病基因及其编码蛋白
atg gcc gcc ttc ctc atg gct gcc ctc gtt ccc atc cct gcg ctg cga 1587
Met Ala Ala Phe Leu Met Ala Ala Leu Val Pro Ile Pro Ala Leu Arg
510 515 520 525
gcc ttc tcc cta cag gcg gcc ata gtg gtt ggc tgc acc ttt gta gcc 1635
Ala Phe Ser Leu Gln Ala Ala Ile Val Val Gly Cys Thr Phe Val Ala
530 535 540
gtg atg ctt gtc ttc cca gcc atc ctc agc ctg gac cta cgg cgg cgc 1683
Val Met Leu Val Phe Pro Ala Ile Leu Ser Leu Asp Leu Arg Arg Arg
545 550 555
cac tgc cag cgc ctt gat gtg ctc tgc tgc ttc tcc agt ccc tgc tct 1731
His Cys Gln Arg Leu Asp Val Leu Cys Cys Phe Ser Ser Pro Cys Ser
560 565 570
gct cag gtg att cag atc ctg ccc cag gag ctg ggg gac ggg aca gta 1779
Ala Gln Val Ile Gln Ile Leu Pro Gln Glu Leu Gly Asp Gly Thr Val
575 580 585
cca gtg ggc att gcc cac ctc act gcc aca gtt caa gcc ttt acc cac 1827
Pro Val Gly Ile Ala His Leu Thr Ala Thr Val Gln Ala Phe Thr His
590 595 600 605
tgt gaa gcc agc agc cag cat gtg gtc acc atc ctg cct ccc caa gcc 1875
Cys Glu Ala Ser Ser Gln His Val Val Thr Ile Leu Pro Pro Gln Ala
610 615 620
cac ctg gtg ccc cca cct tct gac cca ctg ggc tct gag ctc ttc agc 1923
His Leu Val Pro Pro Pro Ser Asp Pro Leu Gly Ser Glu Leu Phe Ser
625 630 635
cct gga ggg tcc aca cgg gac ctt cta ggc cag gag gag gag aca agg 1971
Pro Gly Gly Ser Thr Arg Asp Leu Leu Gly Gln Glu Glu Glu Thr Arg
640 645 650
cag aag gca gcc tgc aag tcc ctg ccc tgt gcc cgc tgg aat ctt gcc 2019
Gln Lys Ala Ala Cys Lys Ser Leu Pro Cys Ala Arg Trp Asn Leu Ala
655 660 665
cat ttc gcc cgc tat cag ttt gcc ccg ttg ctg ctc cag tca cat gct 2067
His Phe Ala Arg Tyr Gln Phe Ala Pro Leu Leu Leu Gln Ser His Ala
670 675 680 685
aag gcc atc gtg ctg gtg ctc ttt ggt gct ctt ctg ggc ctg agc ctc 2115
Lys Ala Ile Val Leu Val Leu Phe Gly Ala Leu Leu Gly Leu Ser Leu
690 695 700
tac gga gcc acc ttg gtg caa gac ggc ctg gcc ctg acg gat gtg gtg 2163
Tyr Gly Ala Thr Leu Val Gln Asp Gly Leu Ala Leu Thr Asp Val Val
705 710 715
cct cgg ggc acc aag gag cat gcc ttc ctg agc gcc cag ctc agg tac 2211
Pro Arg Gly Thr Lys Glu His Ala Phe Leu Ser Ala Gln Leu Arg Tyr
720 725 730
ttc tcc ctg tac gag gtg gcc ctg gtg acc cag ggt ggc ttt gac tac 2259
Phe Ser Leu Tyr Glu Val Ala Leu Val Thr Gln Gly Gly Phe Asp Tyr
735 740 745
gcc cac tcc caa cgc gcc ctc ttt gat ctg cac cag cgc ttc agt tcc 2307
Ala His Ser Gln Arg Ala Leu Phe Asp Leu His Gln Arg Phe Ser Ser
750 755 760 765
ctc aag gcg gtg ctg ccc cca ccg gcc acc cag gca ccc cgc acc tgg 2355
Leu Lys Ala Val Leu Pro Pro Pro Ala Thr Gln Ala Pro Arg Thr Trp
770 775 780
ctg cac tat tac cgc aac tgg cta cag gga atc cag gct gcc ttt gac 2403
Leu His Tyr Tyr Arg Asn Trp Leu Gln Gly Ile Gln Ala Ala Phe Asp
785 790 795
cag gac tgg gct tct ggg cgc atc acc cgc cac tcg tac cgc aat ggc 2451
Gln Asp Trp Ala Ser Gly Arg Ile Thr Arg His Ser Tyr Arg Asn Gly
Untitled[1][1][1].ST25痣样基底细胞癌综合征致病基因及其编码蛋白
800 805 810
tct gag gat ggg gcc ctg gcc tac aag ctg ctc atc cag act gga gac 2499
Ser Glu Asp Gly Ala Leu Ala Tyr Lys Leu Leu Ile Gln Thr Gly Asp
815 820 825
gcc cag gag cct ctg gat ttc agc cag ctg acc aca agg aag ctg gtg 2547
Ala Gln Glu Pro Leu Asp Phe Ser Gln Leu Thr Thr Arg Lys Leu Val
830 835 840 845
gac aga gag gga ctg att cca ccc gag ctc ttc tac atg ggg ctg acc 2595
Asp Arg Glu Gly Leu Ile Pro Pro Glu Leu Phe Tyr Met Gly Leu Thr
850 855 860
gtg tgg gtg agc agt gac ccc ctg ggt ctg gca gcc tca cag gcc aac 2643
Val Trp Val Ser Ser Asp Pro Leu Gly Leu Ala Ala Ser Gln Ala Asn
865 870 875
ttc tac ccc cca cct cct gaa tgg ctg cac gac aaa tac gac acc acg 2691
Phe Tyr Pro Pro Pro Pro Glu Trp Leu His Asp Lys Tyr Asp Thr Thr
880 885 890
ggg gag aac ctt cgc atc ccg cca gct cag ccc ttg gag ttt gcc cag 2739
Gly Glu Asn Leu Arg Ile Pro Pro Ala Gln Pro Leu Glu Phe Ala Gln
895 900 905
ttc ccc ttc ctg ctg cgt ggc ctc cag aag act gca gac ttt gtg gag 2787
Phe Pro Phe Leu Leu Arg Gly Leu Gln Lys Thr Ala Asp Phe Val Glu
910 915 920 925
gcc atc gag ggg gcc cgg gca gca tgc gca gag gcc ggc cag gct ggg 2835
Ala Ile Glu Gly Ala Arg Ala Ala Cys Ala Glu Ala Gly Gln Ala Gly
930 935 940
gtg cac gcc tac ccc agc ggc tcc ccc ttc ctc ttc tgg gaa cag tat 2883
Val His Ala Tyr Pro Ser Gly Ser Pro Phe Leu Phe Trp Glu Gln Tyr
945 950 955
ctg ggc ctg cgg cgc tgc ttc ctg ctg gcc gtc tgc atc ctg ctg gtg 2931
Leu Gly Leu Arg Arg Cys Phe Leu Leu Ala Val Cys Ile Leu Leu Val
960 965 970
tgc act ttc ctc gtc tgt gct ctg ctg ctc ctc aac ccc tgg acg gct 2979
Cys Thr Phe Leu Val Cys Ala Leu Leu Leu Leu Asn Pro Trp Thr Ala
975 980 985
ggc ctc ata gtg ctg gtc ctg gcg atg atg aca gtg gaa ctc ttt ggt 3027
Gly Leu Ile Val Leu Val Leu Ala Met Met Thr Val Glu Leu Phe Gly
990 995 1000 1005
atc atg ggt ttc ctg ggc atc aag ctg agt gcc atc ccc gtg gtg 3072
Ile Met Gly Phe Leu Gly Ile Lys Leu Ser Ala Ile Pro Val Val
1010 1015 1020
atc ctt gtg gcc tct gta ggc att ggc gtt gag ttc aca gtc cac 3117
Ile Leu Val Ala Ser Val Gly Ile Gly Val Glu Phe Thr Val His
1025 1030 1035
gtg gct ctg ggc ttc ctg acc acc cag ggc agc cgg aac ctg cgg 3162
Val Ala Leu Gly Phe Leu Thr Thr Gln Gly Ser Arg Asn Leu Arg
1040 1045 1050
gcc gcc cat gcc ctt gag cac aca ttt gcc ccc gtg acc gat ggg 3207
Ala Ala His Ala Leu Glu His Thr Phe Ala Pro Val Thr Asp Gly
1055 1060 1065
gcc atc tcc aca ttg ctg ggt ctg ctc atg ctt gct ggt tcc cac 3252
Ala Ile Ser Thr Leu Leu Gly Leu Leu Met Leu Ala Gly Ser His
1070 1075 1080
ttt gac ttc att gta agg tac ttc ttt gcg gcg ctg aca gtg ctc 3297
Phe Asp Phe Ile Val Arg Tyr Phe Phe Ala Ala Leu Thr Val Leu
1085 1090 1095
acg ctc ctg ggc ctc ctc cat gga ctc gtg ctg ctg cct gtg ctg 3342
Untitled[1][1][1].ST25痣样基底细胞癌综合征致病基因及其编码蛋白
Thr Leu Leu Gly Leu Leu His Gly Leu Val Leu Leu Pro Val Leu
1100 1105 1110
ctg tcc atc ctg ggc ccg ccg cca gag gtg ata cag atg tac aag 3387
Leu Ser Ile Leu Gly Pro Pro Pro Glu Val Ile Gln Met Tyr Lys
1115 1120 1125
gaa agc cca gag atc ctg agt cca cca gct cca cag gga ggc ggg 3432
Glu Ser Pro Glu Ile Leu Ser Pro Pro Ala Pro Gln Gly Gly Gly
1130 1135 1140
ctt agg tgg ggg gca tcc tcc tcc ctg ccc cag agc ttt gcc aga 3477
Leu Arg Trp Gly Ala Ser Ser Ser Leu Pro Gln Ser Phe Ala Arg
1145 1150 1155
gtg act acc tcc atg acc gtg gcc atc cac cca ccc ccc ctg cct 3522
Val Thr Thr Ser Met Thr Val Ala Ile His Pro Pro Pro Leu Pro
1160 1165 1170
ggt gcc tac atc cat cca gcc cct gat gag ccc cct tgg tcc cct 3567
Gly Ala Tyr Ile His Pro Ala Pro Asp Glu Pro Pro Trp Ser Pro
1175 1180 1185
gct gcc act agc tct ggc aac ctc agt tcc agg gga cca ggt cca 3612
Ala Ala Thr Ser Ser Gly Asn Leu Ser Ser Arg Gly Pro Gly Pro
1190 1195 1200
gcc act ggg tga 3624
Ala Thr Gly
<210>2
<211>1203
<212>PRT
<213>人
<400>2
Met Thr Arg Ser Pro Pro Leu Arg Glu Leu Pro Pro Ser Tyr Thr Pro
1 5 10 15
Pro Ala Arg Thr Ala Ala Pro Gln Ile Leu Ala Gly Ser Leu Lys Ala
20 25 30
Pro Leu Trp Leu Arg Ala Tyr Phe Gln Gly Leu Leu Phe Ser Leu Gly
35 40 45
Cys Gly Ile Gln Arg His Cys Gly Lys Val Leu Phe Leu Gly Leu Leu
50 55 60
Ala Phe Gly Ala Leu Ala Leu Gly Leu Arg Met Ala Ile Ile Glu Thr
65 70 75 80
Asn Leu Glu Gln Leu Trp Val Glu Val Gly Ser Arg Val Ser Gln Glu
85 90 95
Leu His Tyr Thr Lys Glu Lys Leu Gly Glu Glu Ala Ala Tyr Thr Ser
100 105 110
Gln Met Leu Ile Gln Thr Ala Arg Gln Glu Gly Glu Asn Ile Leu Thr
115 120 125
Pro Glu Ala Leu Gly Leu His Leu Gln Ala Ala Leu Thr Ala Ser Lys
130 135 140
Untitled[1][1][1].ST25痣样基底细胞癌综合征致病基因及其编码蛋白
Val Gln Val Ser Leu Tyr Gly Lys Ser Trp Asp Leu Asn Lys Ile Cys
145 150 155 160
Tyr Lys Ser Gly Val Pro Leu Ile Glu Asn Gly Met Ile Glu Arg Met
165 170 175
Ile Glu Lys Leu Phe Pro Cys Val Ile Leu Thr Pro Leu Asp Cys Phe
180 185 190
Trp Glu Gly Ala Lys Leu Gln Gly Gly Ser Ala Tyr Leu Pro Gly Arg
195 200 205
Pro Asp Ile Gln Trp Thr Asn Leu Asp Pro Glu Gln Leu Leu Glu Glu
210 215 220
Leu Gly Pro Phe Ala Ser Leu Glu Gly Phe Arg Glu Leu Leu Asp Lys
225 230 235 240
Ala Gln Val Gly Gln Ala Tyr Val Gly Arg Pro Cys Leu His Pro Asp
245 250 255
Asp Leu His Cys Pro Pro Ser Ala Pro Asn His His Ser Arg Gln Ala
260 265 270
Pro Asn Val Ala His Glu Leu Ser Gly Gly Cys His Gly Phe Ser His
275 280 285
Lys Phe Met His Trp Gln Glu Glu Leu Leu Leu Gly Gly Met Ala Arg
290 295 300
Asp Pro Gln Gly Glu Leu Leu Arg Ala Glu Ala Leu Gln Ser Thr Phe
305 310 315 320
Leu Leu Met Ser Pro Arg Gln Leu Tyr Glu His Phe Arg Gly Asp Tyr
325 330 335
Gln Thr His Asp Ile Gly Trp Ser Glu Glu Gln Ala Ser Thr Val Leu
340 345 350
Gln Ala Trp Gln Arg Arg Phe Val Gln Leu Ala Gln Glu Ala Leu Pro
355 360 365
Glu Asn Ala Ser Gln Gln Ile His Ala Phe Ser Ser Thr Thr Leu Asp
370 375 380
Asp Ile Leu His Ala Phe Ser Glu Val Ser Ala Ala Arg Val Val Gly
385 390 395 400
Gly Tyr Leu Leu Met Leu Ala Tyr Ala Cys Val Thr Met Leu Arg Trp
405 410 415
Asp Cys Ala Gln Ser Gln Gly Ser Val Gly Leu Ala Gly Val Leu Leu
420 425 430
Val Ala Leu Ala Val Ala Ser Gly Leu Gly Leu Cys Ala Leu Leu Gly
435 440 445
Untitled[1][1][1].ST25痣样基底细胞癌综合征致病基因及其编码蛋白
Ile Thr Phe Asn Ala Ala Thr Thr Gln Val Leu Pro Phe Leu Ala Leu
450 455 460
Gly Ile Gly Val Asp Asp Val Phe Leu Leu Ala His Ala Phe Thr Glu
465 470 475 480
Ala Leu Pro Gly Thr Pro Leu Gln Glu Arg Met Gly Glu Cys Leu Gln
485 490 495
Arg Thr Gly Thr Ser Val Val Leu Thr Ser Ile Asn Asn Met Ala Ala
500 505 510
Phe Leu Met Ala Ala Leu Val Pro Ile Pro Ala Leu Arg Ala Phe Ser
515 520 525
Leu Gln Ala Ala Ile Val Val Gly Cys Thr Phe Val Ala Val Met Leu
530 535 540
Val Phe Pro Ala Ile Leu Ser Leu Asp Leu Arg Arg Arg His Cys Gln
545 550 555 560
Arg Leu Asp Val Leu Cys Cys Phe Ser Ser Pro Cys Ser Ala Gln Val
565 570 575
Ile Gln Ile Leu Pro Gln Glu Leu Gly Asp Gly Thr Val Pro Val Gly
580 585 590
Ile Ala His Leu Thr Ala Thr Val Gln Ala Phe Thr His Cys Glu Ala
595 600 605
Ser Ser Gln His Val Val Thr Ile Leu Pro Pro Gln Ala His Leu Val
610 615 620
Pro Pro Pro Ser Asp Pro Leu Gly Ser Glu Leu Phe Ser Pro Gly Gly
625 630 635 640
Ser Thr Arg Asp Leu Leu Gly Gln Glu Glu Glu Thr Arg Gln Lys Ala
645 650 655
Ala Cys Lys Ser Leu Pro Cys Ala Arg Trp Asn Leu Ala His Phe Ala
660 665 670
Arg Tyr Gln Phe Ala Pro Leu Leu Leu Gln Ser His Ala Lys Ala Ile
675 680 685
Val Leu Val Leu Phe Gly Ala Leu Leu Gly Leu Ser Leu Tyr Gly Ala
690 695 700
Thr Leu Val Gln Asp Gly Leu Ala Leu Thr Asp Val Val Pro Arg Gly
705 710 715 720
Thr Lys Glu His Ala Phe Leu Ser Ala Gln Leu Arg Tyr Phe Ser Leu
725 730 735
Tyr Glu Val Ala Leu Val Thr Gln Gly Gly Phe Asp Tyr Ala His Ser
740 745 750
Untitled[1][1][1].ST25痣样基底细胞癌综合征致病基因及其编码蛋白
Gln Arg Ala Leu Phe Asp Leu His Gln Arg Phe Ser Ser Leu Lys Ala
755 760 765
Val Leu Pro Pro Pro Ala Thr Gln Ala Pro Arg Thr Trp Leu His Tyr
770 775 780
Tyr Arg Asn Trp Leu Gln Gly Ile Gln Ala Ala Phe Asp Gln Asp Trp
785 790 795 800
Ala Ser Gly Arg Ile Thr Arg His Ser Tyr Arg Asn Gly Ser Glu Asp
805 810 815
Gly Ala Leu Ala Tyr Lys Leu Leu Ile Gln Thr Gly Asp Ala Gln Glu
820 825 830
Pro Leu Asp Phe Ser Gln Leu Thr Thr Arg Lys Leu Val Asp Arg Glu
835 840 845
Gly Leu Ile Pro Pro Glu Leu Phe Tyr Met Gly Leu Thr Val Trp Val
850 855 860
Ser Ser Asp Pro Leu Gly Leu Ala Ala Ser Gln Ala Asn Phe Tyr Pro
865 870 875 880
Pro Pro Pro Glu Trp Leu His Asp Lys Tyr Asp Thr Thr Gly Glu Asn
885 890 895
Leu Arg Ile Pro Pro Ala Gln Pro Leu Glu Phe Ala Gln Phe Pro Phe
900 905 910
Leu Leu Arg Gly Leu Gln Lys Thr Ala Asp Phe Val Glu Ala Ile Glu
915 920 925
Gly Ala Arg Ala Ala Cys Ala Glu Ala Gly Gln Ala Gly Val His Ala
930 935 940
Tyr Pro Ser Gly Ser Pro Phe Leu Phe Trp Glu Gln Tyr Leu Gly Leu
945 950 955 960
Arg Arg Cys Phe Leu Leu Ala Val Cys Ile Leu Leu Val Cys Thr Phe
965 970 975
Leu Val Cys Ala Leu Leu Leu Leu Asn Pro Trp Thr Ala Gly Leu Ile
980 985 990
Val Leu Val Leu Ala Met Met Thr Val Glu Leu Phe Gly Ile Met Gly
995 1000 1005
Phe Leu Gly Ile Lys Leu Ser Ala Ile Pro Val Val Ile Leu Val
1010 1015 1020
Ala Ser Val Gly Ile Gly Val Glu Phe Thr Val His Val Ala Leu
1025 1030 1035
Gly Phe Leu Thr Thr Gln Gly Ser Arg Asn Leu Arg Ala Ala His
Untitled[1][1][1].ST25痣样基底细胞癌综合征致病基因及其编码蛋白
1040 1045 1050
Ala Leu Glu His Thr Phe Ala Pro Val Thr Asp Gly Ala Ile Ser
1055 1060 1065
Thr Leu Leu Gly Leu Leu Met Leu Ala Gly Ser His Phe Asp Phe
1070 1075 1080
Ile Val Arg Tyr Phe Phe Ala Ala Leu Thr Val Leu Thr Leu Leu
1085 1090 1095
Gly Leu Leu His Gly Leu Val Leu Leu Pro Val Leu Leu Ser Ile
1100 1105 1110
Leu Gly Pro Pro Pro Glu Val Ile Gln Met Tyr Lys Glu Ser Pro
1115 1120 1125
Glu Ile Leu Ser Pro Pro Ala Pro Gln Gly Gly Gly Leu Arg Trp
1130 1135 1140
Gly Ala Ser Ser Ser Leu Pro Gln Ser Phe Ala Arg Val Thr Thr
1145 1150 1155
Ser Met Thr Val Ala Ile His Pro Pro Pro Leu Pro Gly Ala Tyr
1160 1165 1170
Ile His Pro Ala Pro Asp Glu Pro Pro Trp Ser Pro Ala Ala Thr
1175 1180 1185
Ser Ser Gly Asn Leu Ser Ser Arg Gly Pro Gly Pro Ala Thr Gly
1190 1195 1200
<210>3
<211>3624
<212>DNA
<213>人
<220>
<221>CDS
<222>(13)..(3621)
<223>
<400>3
atccccgcca gc atg act cga tcg ccg ccc ctc aga gag ctg ccc ccg agt 51
Met Thr Arg Ser Pro Pro Leu Arg Glu Leu Pro Pro Ser
1 5 10
tac aca ccc cca gct cga acc gca gca ccc cag atc cta gct ggg agc 99
Tyr Thr Pro Pro Ala Arg Thr Ala Ala Pro Gln Ile Leu Ala Gly Ser
15 20 25
ctg aag gct cca ctc tgg ctt cgt gct tac ttc cag ggc ctg ctc ttc 147
Leu Lys Ala Pro Leu Trp Leu Arg Ala Tyr Phe Gln Gly Leu Leu Phe
30 35 40 45
tct ctg gga tgc ggg atc cag aga cat tgt ggc aaa gtg ctc ttt ctg 195
Ser Leu Gly Cys Gly Ile Gln Arg His Cys Gly Lys Val Leu Phe Leu
50 55 60
gga ctg ttg gcc ttt ggg gcc ctg gca tta ggt ctc cgc atg gcc att 243
Gly Leu Leu Ala Phe Gly Ala Leu Ala Leu Gly Leu Arg Met Ala Ile
65 70 75
att gag aca aac ttg gaa cag ctc tgg gta gaa gtg ggc agc cgg gtg 291
Untitled[1][l][1].ST25痣样基底细胞癌综合征致病基因及其编码蛋白
Ile Glu Thr Asn Leu Glu Gln Leu Trp Val Glu Val Gly Ser Arg Val
80 85 90
agc cag gag ctg cat tac acc aag gag aag ctg ggg gag gag gct gca 339
Ser Gln Glu Leu His Tyr Thr Lys Glu Lys Leu Gly Glu Glu Ala Ala
95 100 105
tac acc tct cag atg ctg ata cag acc gca cgc cag gag gga gag aac 387
Tyr Thr Ser Gln Met Leu Ile Gln Thr Ala Arg Gln Glu Gly Glu Asn
110 115 120 125
atc ctc aca ccc gaa gca ctt ggc ctc cac ctc cag gca gcc ctc act 435
Ile Leu Thr Pro Glu Ala Leu Gly Leu His Leu Gln Ala Ala Leu Thr
130 135 140
gcc agt aaa gtc caa gta tca ctc tat ggg aag tcc tgg gat ttg aac 483
Ala Ser Lys Val Gln Val Ser Leu Tyr Gly Lys Ser Trp Asp Leu Asn
145 150 155
aaa atc tgc tac aag tca gga gtt ccc ctt att gaa aat gga atg att 531
Lys Ile Cys Tyr Lys Ser Gly Val Pro Leu Ile Glu Asn Gly Met Ile
160 165 170
gag cgg atg att gag aag ctg ttt ccg tgc gtg atc ctc acc ccc ctc 579
Glu Arg Met Ile Glu Lys Leu Phe Pro Cys Val Ile Leu Thr Pro Leu
175 180 185
gac tgc ttc tgg gag gga gcc aaa ctc caa ggg ggc tcc gcc tac ctg 627
Asp Cys Phe Trp Glu Gly Ala Lys Leu Gln Gly Gly Ser Ala Tyr Leu
190 195 200 205
ccc ggc cgc ccg gat atc cag tgg acc aac ctg gat cca gag cag ctg 675
Pro Gly Arg Pro Asp Ile Gln Trp Thr Asn Leu Asp Pro Glu Gln Leu
210 215 220
ctg gag gag ctg ggt ccc ttt gcc tcc ctt gag ggc ttc cgg gag ctg 723
Leu Glu Glu Leu Gly Pro Phe Ala Ser Leu Glu Gly Phe Arg Glu Leu
225 230 235
cta gac aag gca cag gtg ggc cag gcc tac gtg ggg cgg ccc tgt ctg 771
Leu Asp Lys Ala Gln Val Gly Gln Ala Tyr Val Gly Arg Pro Cys Leu
240 245 250
cac cct gat gac ctc cac tgc cca cct agt gcc ccc aac cat cac agc 819
His Pro Asp Asp Leu His Cys Pro Pro Ser Ala Pro Asn His His Ser
255 260 265
agg cag gct ccc aat gtg gct cac gag ctg agt ggg ggc tgc cat ggc 867
Arg Gln Ala Pro Asn Val Ala His Glu Leu Ser Gly Gly Cys His Gly
270 275 280 285
ttc tcc cac aaa ttc atg cac tgg cag gag gaa ttg ctg ctg gga ggc 915
Phe Ser His Lys Phe Met His Trp Gln Glu Glu Leu Leu Leu Gly Gly
290 295 300
atg gcc aga gac ccc caa gga gag ctg ctg agg gca gag gcc ctg cag 963
Met Ala Arg Asp Pro Gln Gly Glu Leu Leu Arg Ala Glu Ala Leu Gln
305 310 315
agc acc ttc ttg ctg atg agt ccc cgc cag ctg tac gag cat ttc cgg 1011
Ser Thr Phe Leu Leu Met Ser Pro Arg Gln Leu Tyr Glu His Phe Arg
320 325 330
ggt gac tat cag aca cat gac att ggc tgg agt gag gag cag gcc agc 1059
Gly Asp Tyr Gln Thr His Asp Ile Gly Trp Ser Glu Glu Gln Ala Ser
335 340 345
aca gtg cta caa gcc tgg cag cgg cgc ttt gtg cag ctg gcc cag gag 1107
Thr Val Leu Gln Ala Trp Gln Arg Arg Phe Val Gln Leu Ala Gln Glu
350 355 360 365
gcc ctg cct gag aac gct tcc cag cag atc cat gcc ttc tcc tcc acc 1155
Ala Leu Pro Glu Asn Ala Ser Gln Gln Ile His Ala Phe Ser Ser Thr
370 375 380
Untitled[1][1][1].ST25痣样基底细胞癌综合征致病基因及其编码蛋白
acc ctg gat gac atc ctg cat gcg ttc tct gaa gtc agt gct gcc cgt 1203
Thr Leu Asp Asp Ile Leu His Ala Phe Ser Glu Val Ser Ala Ala Arg
385 390 395
gtg gtg gga ggc tat ctg ctc atg ctg gcc tat gcc tgt gtg acc atg 1251
Val Val Gly Gly Tyr Leu Leu Met Leu Ala Tyr Ala Cys Val Thr Met
400 405 410
ctg cgg tgg gac tgc gcc cag tcc cag ggt tcc gtg ggc ctt gcc ggg 1299
Leu Arg Trp Asp Cys Ala Gln Ser Gln Gly Ser Val Gly Leu Ala Gly
415 420 425
gta ctg ctg gtg gcc ctg gcg gtg gcc tca ggc ctt ggg ctc tgt gcc 1347
Val Leu Leu Val Ala Leu Ala Val Ala Ser Gly Leu Gly Leu Cys Ala
430 435 440 445
ctg ctc ggc atc acc ttc aat gct gcc act acc cag gtg ctg ccc ttc 1395
Leu Leu Gly Ile Thr Phe Asn Ala Ala Thr Thr Gln Val Leu Pro Phe
450 455 460
ttg gct ctg gga atc ggc gtg gat gac gta ttc ctg ctg gcg cat gcc 1443
Leu Ala Leu Gly Ile Gly Val Asp Asp Val Phe Leu Leu Ala His Ala
465 470 475
ttc aca gag gct ctg cct ggc acc cct ctc cag gag cgc atg ggc gag 1491
Phe Thr Glu Ala Leu Pro Gly Thr Pro Leu Gln Glu Arg Met Gly Glu
480 485 490
tgt ctg cag cgc acg ggc acc agt gtc gta ctc aca tcc atc aac aac 1539
Cys Leu Gln Arg Thr Gly Thr Ser Val Val Leu Thr Ser Ile Asn Asn
495 500 505
atg gcc gcc ttc ctc atg gct gcc ctc gtt ccc atc cct gcg ctg cga 1587
Met Ala Ala Phe Leu Met Ala Ala Leu Val Pro Ile Pro Ala Leu Arg
510 515 520 525
gcc ttc tcc cta cag gcg gcc ata gtg gtt ggc tgc acc ttt gta gcc 1635
Ala Phe Ser Leu Gln Ala Ala Ile Val Val Gly Cys Thr Phe Val Ala
530 535 540
gtg atg ctt gtc ttc cca gcc atc ctc agc ctg gac cta cgg cgg cgc 1683
Val Met Leu Val Phe Pro Ala Ile Leu Ser Leu Asp Leu Arg Arg Arg
545 550 555
cac tgc cag cgc ctt gat gtg ctc tgc tgc ttc tcc agt ccc tgc tct 1731
His Cys Gln Arg Leu Asp Val Leu Cys Cys Phe Ser Ser Pro Cys Ser
560 565 570
gct cag gtg att cag atc ctg ccc cag gag ctg ggg gac ggg aca gta 1779
Ala Gln Val Ile Gln Ile Leu Pro Gln Glu Leu Gly Asp Gly Thr Val
575 580 585
cca gtg ggc att gcc cac ctc act gcc aca gtt caa gcc ttt acc cac 1827
Pro Val Gly Ile Ala His Leu Thr Ala Thr Val Gln Ala Phe Thr His
590 595 600 605
tgt gaa gcc agc agc cag cat gtg gtc acc atc ctg cct ccc caa gcc 1875
Cys Glu Ala Ser Ser Gln His Val Val Thr Ile Leu Pro Pro Gln Ala
610 615 620
cac ctg gtg ccc cca cct tct gac cca ctg ggc tct gag ctc ttc agc 1923
His Leu Val Pro Pro Pro Ser Asp Pro Leu Gly Ser Glu Leu Phe Ser
625 630 635
cct gga ggg tcc aca cgg gac ctt cta ggc cag gag gag gag aca agg 1971
Pro Gly Gly Ser Thr Arg Asp Leu Leu Gly Gln Glu Glu Glu Thr Arg
640 645 650
cag aag gca gcc tgc aag tcc ctg ccc tgt gcc cgc tgg aat ctt gcc 2019
Gln Lys Ala Ala Cys Lys Ser Leu Pro Cys Ala Arg Trp Aan Leu Ala
655 660 665
cat ttc gcc cgc tat cag ttt gcc ccg ttg ctg ctc cag tca cat gct 2067
His Phe Ala Arg Tyr Gln Phe Ala Pro Leu Leu Leu Gln Ser His Ala
670 675 680 685
Untitled[1][1][1].ST25痣样基底细胞癌综合征致病基因及其编码蛋白
aag gcc atc gtg ctg gtg ctc ttt ggt gct ctt ctg ggc ctg agc ctc 2115
Lys Ala Ile Val Leu Val Leu Phe Gly Ala Leu Leu Gly Leu Ser Leu
690 695 700
tac gga gcc acc ttg gtg caa gac ggc ctg gcc ctg acg gat gtg gtg 2163
Tyr Gly Ala Thr Leu Val Gln Asp Gly Leu Ala Leu Thr Asp Val Val
705 710 715
cct cag ggc acc aag gag cat gcc ttc ctg agc gcc cag ctc agg tac 2211
Pro Gln Gly Thr Lys Glu His Ala Phe Leu Ser Ala Gln Leu Arg Tyr
720 725 730
ttc tcc ctg tac gag gtg gcc ctg gtg acc cag ggt ggc ttt gac tac 2259
Phe Ser Leu Tyr Glu Val Ala Leu Val Thr Gln Gly Gly Phe Asp Tyr
735 740 745
gcc cac tcc caa cgc gcc ctc ttt gat ctg cac cag cgc ttc agt tcc 2307
Ala His Ser Gln Arg Ala Leu Phe Asp Leu His Gln Arg Phe Ser Ser
750 755 760 765
ctc aag gcg gtg ctg ccc cca ccg gcc acc cag gca ccc cgc acc tgg 2355
Leu Lys Ala Val Leu Pro Pro Pro Ala Thr Gln Ala Pro Arg Thr Trp
770 775 780
ctg cac tat tac cgc aac tgg cta cag gga atc cag gct gcc ttt gac 2403
Leu His Tyr Tyr Arg Asn Trp Leu Gln Gly Ile Gln Ala Ala Phe Asp
785 790 795
cag gac tgg gct tct ggg cgc atc acc cgc cac tcg tac cgc aat ggc 2451
Gln Asp Trp Ala Ser Gly Arg Ile Thr Arg His Ser Tyr Arg Asn Gly
800 805 810
tct gag gat ggg gcc ctg gcc tac aag ctg ctc atc cag act gga gac 2499
Ser Glu Asp Gly Ala Leu Ala Tyr Lys Leu Leu Ile Gln Thr Gly Asp
815 820 825
gcc cag gag cct ctg gat ttc agc cag ctg acc acg agg aag ctg gtg 2547
Ala Gln Glu Pro Leu Asp Phe Ser Gln Leu Thr Thr Arg Lys Leu Val
830 835 840 845
gac aga gag gga ctg att cca ccc gag ctc ttc tac atg ggg ctg acc 2595
Asp Arg Glu Gly Leu Ile Pro Pro Glu Leu Phe Tyr Met Gly Leu Thr
850 855 860
gtg tgg gtg agc agt gac ccc ctg ggt ctg gca gcc tca cag gcc aac 2643
Val Trp Val Ser Ser Asp Pro Leu Gly Leu Ala Ala Ser Gln Ala Asn
865 870 875
ttc tac ccc cca cct cct gaa tgg ctg cac gac aaa tac gac acc acg 2691
Phe Tyr Pro Pro Pro Pro Glu Trp Leu His Asp Lys Tyr Asp Thr Thr
880 885 890
ggg gag aac ctt cgc atc ccg cca gct cag ccc ttg gag ttt gcc cag 2739
Gly Glu Asn Leu Arg Ile Pro Pro Ala Gln Pro Leu Glu Phe Ala Gln
895 900 905
ttc ccc ttc ctg ctg cgt ggc ctc cag aag act gca gac ttt gtg gag 2787
Phe Pro Phe Leu Leu Arg Gly Leu Gln Lys Thr Ala Asp Phe Val Glu
910 915 920 925
gcc atc gag ggg gcc cgg gca gca tgc gca gag gcc ggc cag gct ggg 2835
Ala Ile Glu Gly Ala Arg Ala Ala Cys Ala Glu Ala Gly Gln Ala Gly
930 935 940
gtg cac gcc tac ccc agc ggc tcc ccc ttc ctc ttc tgg gaa cag tat 2883
Val His Ala Tyr Pro Ser Gly Ser Pro Phe Leu Phe Trp Glu Gln Tyr
945 950 955
ctg ggc ctg cgg cgc tgc ttc ctg ctg gcc gtc tgc atc ctg ctg gtg 2931
Leu Gly Leu Arg Arg Cys Phe Leu Leu Ala Val Cys Ile Leu Leu Val
960 965 970
tgc act ttc ctc gtc tgt gct ctg ctg ctc ctc aac ccc tgg acg gct 2979
Cys Thr Phe Leu Val Cys Ala Leu Leu Leu Leu Asn Pro Trp Thr Ala
Untitled[1][1][1].ST25痣样基底细胞癌综合征致病基因及其编码蛋白
975 980 985
ggc ctc ata gtg ctg gtc ctg gcg atg atg aca gtg gaa ctc ttt ggt 3027
Gly Leu Ile Val Leu Val Leu Ala Met Met Thr Val Glu Leu Phe Gly
990 995 1000 1005
atc atg ggt ttc ctg ggc atc aag ctg agt gcc atc ccc gtg gtg 3072
Ile Met Gly Phe Leu Gly Ile Lys Leu Ser Ala Ile Pro Val Val
1010 1015 1020
atc ctt gtg gcc tct gta ggc att ggc gtt gag ttc aca gtc cac 3117
Ile Leu Val Ala Ser Val Gly Ile Gly Val Glu Phe Thr Val His
1025 1030 1035
gtg gct ctg ggc ttc ctg acc acc cag ggc agc cgg aac ctg cgg 3162
Val Ala Leu Gly Phe Leu Thr Thr Gln Gly Ser Arg Asn Leu Arg
1040 1045 1050
gcc gcc cat gcc ctt gag cac aca ttt gcc ccc gtg acc gat ggg 3207
Ala Ala His Ala Leu Glu His Thr Phe Ala Pro Val Thr Asp Gly
1055 1060 1065
gcc atc tcc aca ttg ctg ggt ctg ctc atg ctt gct ggt tcc cac 3252
Ala Ile Ser Thr Leu Leu Gly Leu Leu Met Leu Ala Gly Ser His
1070 1075 1080
ttt gac ttc att gta agg tac ttc ttt gcg gcg ctg aca gtg ctc 3297
Phe Asp Phe Ile Val Arg Tyr Phe Phe Ala Ala Leu Thr Val Leu
1085 1090 1095
acg ctc ctg ggc ctc ctc cat gga ctc gtg ctg ctg cct gtg ctg 3342
Thr Leu Leu Gly Leu Leu His Gly Leu Val Leu Leu Pro Val Leu
1100 1105 1110
ctg tcc atc ctg ggc ccg ccg cca gag gtg ata cag atg tac aag 3387
Leu Ser Ile Leu Gly Pro Pro Pro Glu Val Ile Gln Met Tyr Lys
1115 1120 1125
gaa agc cca gag atc ctg agt cca cca gct cca cag gga ggc ggg 3432
Glu Ser Pro Glu Ile Leu Ser Pro Pro Ala Pro Gln Gly Gly Gly
1130 1135 1140
ctt agg tgg ggg gca tcc tcc tcc ctg ccc cag agc ttt gcc aga 3477
Leu Arg Trp Gly Ala Ser Ser Ser Leu Pro Gln Ser Phe Ala Arg
1145 1150 1155
gtg act acc tcc atg acc gtg gcc atc cac cca ccc ccc ctg cct 3522
Val Thr Thr Ser Met Thr Val Ala Ile His Pro Pro Pro Leu Pro
1160 1165 1170
ggt gcc tac atc cat cca gcc cct gat gag ccc cct tgg tcc cct 3567
Gly Ala Tyr Ile His Pro Ala Pro Asp Glu Pro Pro Trp Ser Pro
1175 1180 1185
gct gcc act agc tct ggc aac ctc agt tcc agg gga cca ggt cca 3612
Ala Ala Thr Ser Ser Gly Asn Leu Ser Ser Arg Gly Pro Gly Pro
1190 1195 1200
gcc act ggg tga 3624
Ala Thr Gly
<210>4
<211>1203
<212>PRT
<213>人
<400>4
Met Thr Arg Ser Pro Pro Leu Arg Glu Leu Pro Pro Ser Tyr Thr Pro
1 5 10 15
Pro Ala Arg Thr Ala Ala Pro Gln Ile Leu Ala Gly Ser Leu Lys Ala
Untitled[1][1][1].ST25痣样基底细胞癌综合征致病基因及其编码蛋白
20 25 30
Pro Leu Trp Leu Arg Ala Tyr Phe Gln Gly Leu Leu Phe Ser Leu Gly
35 40 45
Cys Gly Ile Gln Arg His Cys Gly Lys Val Leu Phe Leu Gly Leu Leu
50 55 60
Ala Phe Gly Ala Leu Ala Leu Gly Leu Arg Met Ala Ile Ile Glu Thr
65 70 75 80
Asn Leu Glu Gln Leu Trp Val Glu Val Gly Ser Arg Val Ser Gln Glu
85 90 95
Leu His Tyr Thr Lys Glu Lys Leu Gly Glu Glu Ala Ala Tyr Thr Ser
100 105 110
Gln Met Leu Ile Gln Thr Ala Arg Gln Glu Gly Glu Asn Ile Leu Thr
115 120 125
Pro Glu Ala Leu Gly Leu His Leu Gln Ala Ala Leu Thr Ala Ser Lys
130 135 140
Val Gln Val Ser Leu Tyr Gly Lys Ser Trp Asp Leu Asn Lys Ile Cys
145 150 155 160
Tyr Lys Ser Gly Val Pro Leu Ile Glu Asn Gly Met Ile Glu Arg Met
165 170 175
Ile Glu Lys Leu Phe Pro Cys Val Ile Leu Thr Pro Leu Asp Cys Phe
180 185 190
Trp Glu Gly Ala Lys Leu Gln Gly Gly Ser Ala Tyr Leu Pro Gly Arg
195 200 205
Pro Asp Ile Gln Trp Thr Asn Leu Asp Pro Glu Gln Leu Leu Glu Glu
210 215 220
Leu Gly Pro Phe Ala Ser Leu Glu Gly Phe Arg Glu Leu Leu Asp Lys
225 230 235 240
Ala Gln Val Gly Gln Ala Tyr Val Gly Arg Pro Cys Leu His Pro Asp
245 250 255
Asp Leu His Cys Pro Pro Ser Ala Pro Asn His His Ser Arg Gln Ala
260 265 270
Pro Asn Val Ala His Glu Leu Ser Gly Gly Cys His Gly Phe Ser His
275 280 285
Lys Phe Met His Trp Gln Glu Glu Leu Leu Leu Gly Gly Met Ala Arg
290 295 300
Asp Pro Gln Gly Glu Leu Leu Arg Ala Glu Ala Leu Gln Ser Thr Phe
305 310 315 320
Untitled[1][1][1].ST25痣样基底细胞癌综合征致病基因及其编码蛋白
Leu Leu Met Ser Pro Arg Gln Leu Tyr Glu His Phe Arg Gly Asp Tyr
325 330 335
Gln Thr His Asp Ile Gly Trp Ser Glu Glu Gln Ala Ser Thr Val Leu
340 345 350
Gln Ala Trp Gln Arg Arg Phe Val Gln Leu Ala Gln Glu Ala Leu Pro
355 360 365
Glu Asn Ala Ser Gln Gln Ile His Ala Phe Ser Ser Thr Thr Leu Asp
370 375 380
Asp Ile Leu His Ala Phe Ser Glu Val Ser Ala Ala Arg Val Val Gly
385 390 395 400
Gly Tyr Leu Leu Met Leu Ala Tyr Ala Cys Val Thr Met Leu Arg Trp
405 410 415
Asp Cys Ala Gln Ser Gln Gly Ser Val Gly Leu Ala Gly Val Leu Leu
420 425 430
Val Ala Leu Ala Val Ala Ser Gly Leu Gly Leu Cys Ala Leu Leu Gly
435 440 445
Ile Thr Phe Asn Ala Ala Thr Thr Gln Val Leu Pro Phe Leu Ala Leu
450 455 460
Gly Ile Gly Val Asp Asp Val Phe Leu Leu Ala His Ala Phe Thr Glu
465 470 475 480
Ala Leu Pro Gly Thr Pro Leu Gln Glu Arg Met Gly Glu Cys Leu Gln
485 490 495
Arg Thr Gly Thr Ser Val Val Leu Thr Ser Ile Asn Asn Met Ala Ala
500 505 510
Phe Leu Met Ala Ala Leu Val Pro Ile Pro Ala Leu Arg Ala Phe Ser
515 520 525
Leu Gln Ala Ala Ile Val Val Gly Cys Thr Phe Val Ala Val Met Leu
530 535 540
Val Phe Pro Ala Ile Leu Ser Leu Asp Leu Arg Arg Arg His Cys Gln
545 550 555 560
Arg Leu Asp Val Leu Cys Cys Phe Ser Ser Pro Cys Ser Ala Gln Val
565 570 575
Ile Gln Ile Leu Pro Gln Glu Leu Gly Asp Gly Thr Val Pro Val Gly
580 585 590
Ile Ala His Leu Thr Ala Thr Val Gln Ala Phe Thr His Cys Glu Ala
595 600 605
Ser Ser Gln His Val Val Thr Ile Leu Pro Pro Gln Ala His Leu Val
610 615 620
Untitled[1][1][1].ST25痣样基底细胞癌综合征致病基因及其编码蛋白
Pro Pro Pro Ser Asp Pro Leu Gly Ser Glu Leu Phe Ser Pro Gly Gly
625 630 635 640
Ser Thr Arg Asp Leu Leu Gly Gln Glu Glu Glu Thr Arg Gln Lys Ala
645 650 655
Ala Cys Lys Ser Leu Pro Cys Ala Arg Trp Asn Leu Ala His Phe Ala
660 665 670
Arg Tyr Gln Phe Ala Pro Leu Leu Leu Gln Ser His Ala Lys Ala Ile
675 680 685
Val Leu Val Leu Phe Gly Ala Leu Leu Gly Leu Ser Leu Tyr Gly Ala
690 695 700
Thr Leu Val Gln Asp Gly Leu Ala Leu Thr Asp Val Val Pro Gln Gly
705 710 715 720
Thr Lys Glu His Ala Phe Leu Ser Ala Gln Leu Arg Tyr Phe Ser Leu
725 730 735
Tyr Glu Val Ala Leu Val Thr Gln Gly Gly Phe Asp Tyr Ala His Ser
740 745 750
Gln Arg Ala Leu Phe Asp Leu His Gln Arg Phe Ser Ser Leu Lys Ala
755 760 765
Val Leu Pro Pro Pro Ala Thr Gln Ala Pro Arg Thr Trp Leu His Tyr
770 775 780
Tyr Arg Asn Trp Leu Gln Gly Ile Gln Ala Ala Phe Asp Gln Asp Trp
785 790 795 800
Ala Ser Gly Arg Ile Thr Arg His Ser Tyr Arg Asn Gly Ser Glu Asp
805 810 815
Gly Ala Leu Ala Tyr Lys Leu Leu Ile Gln Thr Gly Asp Ala Gln Glu
820 825 830
Pro Leu Asp Phe Ser Gln Leu Thr Thr Arg Lys Leu Val Asp Arg Glu
835 840 845
Gly Leu Ile Pro Pro Glu Leu Phe Tyr Met Gly Leu Thr Val Trp Val
850 855 860
Ser Ser Asp Pro Leu Gly Leu Ala Ala Ser Gln Ala Asn Phe Tyr Pro
865 870 875 880
Pro Pro Pro Glu Trp Leu His Asp Lys Tyr Asp Thr Thr Gly Glu Ash
885 890 895
Leu Arg Ile Pro Pro Ala Gln Pro Leu Glu Phe Ala Gln Phe Pro Phe
900 905 910
Leu Leu Arg Gly Leu Gln Lys Thr Ala Asp Phe Val Glu Ala Ile Glu
915 920 925
Untitled[1][1][1].ST25痣样基底细胞癌综合征致病基因及其编码蛋白
Gly Ala Arg Ala Ala Cys Ala Glu Ala Gly Gln Ala Gly Val His Ala
930 935 940
Tyr Pro Ser Gly Ser Pro Phe Leu Phe Trp Glu Gln Tyr Leu Gly Leu
945 950 955 960
Arg Arg Cys Phe Leu Leu Ala Val Cys Ile Leu Leu Val Cys Thr Phe
965 970 975
Leu Val Cys Ala Leu Leu Leu Leu Asn Pro Trp Thr Ala Gly Leu Ile
980 985 990
Val Leu Val Leu Ala Met Met Thr Val Glu Leu Phe Gly Ile Met Gly
995 1000 1005
Phe Leu Gly Ile Lys Leu Ser Ala Ile Pro Val Val Ile Leu Val
1010 1015 1020
Ala Ser Val Gly Ile Gly Val Glu Phe Thr Val His Val Ala Leu
1025 1030 1035
Gly Phe Leu Thr Thr Gln Gly Ser Arg Asn Leu Arg Ala Ala His
1040 1045 1050
Ala Leu Glu His Thr Phe Ala Pro Val Thr Asp Gly Ala Ile Ser
1055 1060 1065
Thr Leu Leu Gly Leu Leu Met Leu Ala Gly Ser His Phe Asp Phe
1070 1075 1080
Ile Val Arg Tyr Phe Phe Ala Ala Leu Thr Val Leu Thr Leu Leu
1085 1090 1095
Gly Leu Leu His Gly Leu Val Leu Leu Pro Val Leu Leu Ser Ile
1100 1105 1110
Leu Gly Pro Pro Pro Glu Val Ile Gln Met Tyr Lys Glu Ser Pro
1115 1120 1125
Glu Ile Leu Ser Pro Pro Ala Pro Gln Gly Gly Gly Leu Arg Trp
1130 1135 1140
Gly Ala Ser Ser Ser Leu Pro Gln Ser Phe Ala Arg Val Thr Thr
1145 1150 1155
Ser Met Thr Val Ala Ile His Pro Pro Pro Leu Pro Gly Ala Tyr
1160 1165 1170
Ile His Pro Ala Pro Asp Glu Pro Pro Trp Ser Pro Ala Ala Thr
1175 1180 1185
Ser Ser Gly Asn Leu Ser Ser Arg Gly Pro Gly Pro Ala Thr Gly
1190 1195 1200
<210>5
Untitled[1][1][1].ST25痣样基底细胞癌综合征致病基因及其编码蛋白
<211>3336
<212>DNA
<213>人
<220>
<221>CDS
<222>(13)..(3333)
<223>
<400>5
atccccgcca gc atg act cga tcg ccg ccc ctc aga gag ctg ccc ccg agt 51
Met Thr Arg Ser Pro Pro Leu Arg Glu Leu Pro Pro Ser
1 5 10
tac aca ccc cca gct cga acc gca gca ccc cag atc cta gct ggg agc 99
Tyr Thr Pro Pro Ala Arg Thr Ala Ala Pro Gln Ile Leu Ala Gly Ser
15 20 25
ctg aag gct cea ctc tgg ctt cgt gct tac ttc cag ggc ctg ctc ttc 147
Leu Lys Ala Pro Leu Trp Leu Arg Ala Tyr Phe Gln Gly Leu Leu Phe
30 35 40 45
tct ctg gga tgc ggg atc cag aga cat tgt ggc aaa gtg ctc ttt ctg 195
Ser Leu Gly Cys Gly Ile Gln Arg His Cys Gly Lys Val Leu Phe Leu
50 55 60
gga ctg ttg gcc ttt ggg gcc ctg gca tta ggt ctc cgc atg gcc att 243
Gly Leu Leu Ala Phe Gly Ala Leu Ala Leu Gly Leu Arg Met Ala Ile
65 70 75
att gag aca aac ttg gaa cag ctc tgg gta gaa gtg ggc agc cgg gtg 291
Ile Glu Thr Asn Leu Glu Gln Leu Trp Val Glu Val Gly Ser Arg Val
80 85 90
agc cag gag ctg cat tac acc aag gag aag ctg ggg gag gag gct gca 339
Ser Gln Glu Leu His Tyr Thr Lys Glu Lys Leu Gly Glu Glu Ala Ala
95 100 105
tac acc tct cag atg ctg ata cag acc gca cgc cag gag gga gag aac 387
Tyr Thr Ser Gln Met Leu Ile Gln Thr Ala Arg Gln Glu Gly Glu Asn
110 115 120 125
atc ctc aca ccc gaa gca ctt ggc ctc cac ctc cag gca gcc ctc act 435
Ile Leu Thr Pro Glu Ala Leu Gly Leu His Leu Gln Ala Ala Leu Thr
130 135 140
gcc agt aaa gtc caa gta tca ctc tat ggg aag tcc tgg gat ttg aac 483
Ala Ser Lys Val Gln Val Ser Leu Tyr Gly Lys Ser Trp Asp Leu Asn
145 150 155
aaa atc tgc tac aag tca gga gtt ccc ctt att gaa aat gga atg att 531
Lys Ile Cys Tyr Lys Ser Gly Val Pro Leu Ile Glu Asn Gly Met Ile
160 165 170
gag cag atg att gag aag ctg ttt ccg tgc gtg atc ctc acc ccc ctc 579
Glu Gln Met Ile Glu Lys Leu Phe Pro Cys Val Ile Leu Thr Pro Leu
175 180 185
gac tgc ttc tgg gag gga gcc aaa ctc caa ggg ggc tcc gcc tac ctg 627
Asp Cys Phe Trp Glu Gly Ala Lys Leu Gln Gly Gly Ser Ala Tyr Leu
190 195 200 205
ccc ggc cgc ccg gat atc cag tgg acc aac ctg gat cca gag cag ctg 675
Pro Gly Arg Pro Asp Ile Gln Trp Thr Asn Leu Asp Pro Glu Gln Leu
210 215 220
ctg gag gag ctg ggt ccc ttt gcc tcc ctt gag ggc ttc cgg gag ctg 723
Leu Glu Glu Leu Gly Pro Phe Ala Ser Leu Glu Gly Phe Arg Glu Leu
225 230 235
cta gac aag gca cag gtg ggc cag gcc tac gtg ggg cgg ccc tgt ctg 771
Leu Asp Lys Ala Gln Val Gly Gln Ala Tyr Val Gly Arg Pro Cys Leu
240 245 250
cac cct gat gac ctc cac tgc cca cct agt gcc ccc aac cat cac agc 819
Untitled[1][1][1].ST25痣样基底细胞癌综合征致病基因及其编码蛋白
His Pro Asp Asp Leu His Cys Pro Pro Ser Ala Pro Asn His His Ser
255 260 265
agg cag gct ccc aat gtg gct cac gag ctg agt ggg ggc tgc cat ggc 867
Arg Gln Ala Pro Asn Val Ala His Glu Leu Ser Gly Gly Cys His Gly
270 275 280 285
ttc tcc cac aaa ttc atg cac tgg cag gag gaa ttg ctg ctg gga ggc 915
Phe Ser His Lys Phe Met His Trp Gln Glu Glu Leu Leu Leu Gly Gly
290 295 300
atg gcc aga gac ccc caa gga gag ctg ctg agg gca gag gcc ctg cag 963
Met Ala Arg Asp Pro Gln Gly Glu Leu Leu Arg Ala Glu Ala Leu Gln
305 310 315
agc acc ttc ttg ctg atg agt ccc cgc cag ctg tac gag cat ttc cgg 1011
Ser Thr Phe Leu Leu Met Ser Pro Arg Gln Leu Tyr Glu His Phe Arg
320 325 330
ggt gac tat cag aca cat gac att ggc tgg agt gag gag cag gcc agc 1059
Gly Asp Tyr Gln Thr His Asp Ile Gly Trp Ser Glu Glu Gln Ala Ser
335 340 345
aca gtg cta caa gcc tgg cag cgg cgc ttt gtg cag gtg ctg ccc ttc 1107
Thr Val Leu Gln Ala Trp Gln Arg Arg Phe Val Gln Val Leu Pro Phe
350 355 360 365
ttg gct ctg gga atc ggc gtg gat gac gta ttc ctg ctg gcg cat gcc 1155
Leu Ala Leu Gly Ile Gly Val Asp Asp Val Phe Leu Leu Ala His Ala
370 375 380
ttc aca gag gct ctg cct ggc acc cct ctc cag gag cgc atg ggc gag 1203
Phe Thr Glu Ala Leu Pro Gly Thr Pro Leu Gln Glu Arg Met Gly Glu
385 390 395
tgt ctg cag cgc acg ggc acc agt gtc gta ctc aca tcc atc aac aac 1251
Cys Leu Gln Arg Thr Gly Thr Ser Val Val Leu Thr Ser Ile Asn Asn
400 405 410
atg gcc gcc ttc ctc atg gct gcc ctc gtt ccc atc cct gcg ctg cga 1299
Met Ala Ala Phe Leu Met Ala Ala Leu Val Pro Ile Pro Ala Leu Arg
415 420 425
gcc ttc tcc cta cag gcg gcc ata gtg gtt ggc tgc acc ttt gta gcc 1347
Ala Phe Ser Leu Gln Ala Ala Ile Val Val Gly Cys Thr Phe Val Ala
430 435 440 445
gtg atg ctt gtc ttc cca gcc atc ctc agc ctg gac cta cgg cgg cgc 1395
Val Met Leu Val Phe Pro Ala Ile Leu Ser Leu Asp Leu Arg Arg Arg
450 455 460
cac tgc cag cgc ctt gat gtg ctc tgc tgc ttc tcc agt ccc tgc tct 1443
His Cys Gln Arg Leu Asp Val Leu Cys Cys Phe Ser Ser Pro Cys Ser
465 470 475
gct cag gtg att cag atc ctg ccc cag gag ctg ggg gac ggg aca gta 1491
Ala Gln Val Ile Gln Ile Leu Pro Gln Glu Leu Gly Asp Gly Thr Val
480 485 490
cca gtg ggc att gcc cac ctc act gcc aca gtt caa gcc ttt acc cac 1539
Pro Val Gly Ile Ala His Leu Thr Ala Thr Val Gln Ala Phe Thr His
495 500 505
tgt gaa gcc agc agc cag cat gtg gtc acc atc ctg cct ccc caa gcc 1587
Cys Glu Ala Ser Ser Gln His Val Val Thr Ile Leu Pro Pro Gln Ala
510 515 520 525
cac ctg gtg ccc cca cct tct gac cca ctg ggc tct gag ctc ttc agc 1635
His Leu Val Pro Pro Pro Ser Asp Pro Leu Gly Ser Glu Leu Phe Ser
530 535 540
cct gga ggg tcc aca cgg gac ctt cta ggc cag gag gag gag aca agg 1683
Pro Gly Gly Ser Thr Arg Asp Leu Leu Gly Gln Glu Glu Glu Thr Arg
545 550 555
Untitled[1][1][1].ST25痣样基底细胞癌综合征致病基因及其编码蛋白
cag aag gca gcc tgc aag tcc ctg ccc tgt gcc cgc tgg aat ctt gcc 1731
Gln Lys Ala Ala Cys Lys Ser Leu Pro Cys Ala Arg Trp Asn Leu Ala
560 565 570
cat ttc gcc cgc tat cag ttt gcc ccg ttg ctg ctc cag tca cat gct 1779
His Phe Ala Arg Tyr Gln Phe Ala Pro Leu Leu Leu Gln Ser His Ala
575 580 585
aag gcc atc gtg ctg gtg ctc ttt ggt gct ctt ctg ggc ctg agc ctc 1827
Lys Ala Ile Val Leu Val Leu Phe Gly Ala Leu Leu Gly Leu Ser Leu
590 595 600 605
tac gga gcc acc ttg gtg caa gac ggc ctg gcc ctg acg gat gtg gtg 1875
Tyr Gly Ala Thr Leu Val Gln Asp Gly Leu Ala Leu Thr Asp Val Val
610 615 620
cct cgg ggc acc aag gag cat gcc ttc ctg agc gcc cag ctc agg tac 1923
Pro Arg Gly Thr Lys Glu His Ala Phe Leu Ser Ala Gln Leu Arg Tyr
625 630 635
ttc tcc ctg tac gag gtg gcc ctg gtg acc cag ggt ggc ttt gac tac 1971
Phe Ser Leu Tyr Glu Val Ala Leu Val Thr Gln Gly Gly Phe Asp Tyr
640 645 650
gcc cac tcc caa cgc gcc ctc ttt gat ctg cac cag cgc ttc agt tcc 2019
Ala His Ser Gln Arg Ala Leu Phe Asp Leu His Gln Arg Phe Ser Ser
655 660 665
ctc aag gcg gtg ctg ccc cca ccg gcc acc cag gca ccc cgc acc tgg 2067
Leu Lys Ala Val Leu Pro Pro Pro Ala Thr Gln Ala Pro Arg Thr Trp
670 675 680 685
ctg cac tat tac cgc aac tgg cta cag gga atc cag gct gcc ttt gac 2115
Leu His Tyr Tyr Arg Asn Trp Leu Gln Gly Ile Gln Ala Ala Phe Asp
690 695 700
cag gac tgg gct tct ggg cgc atc acc cgc cac tcg tac cgc aat ggc 2163
Gln Asp Trp Ala Ser Gly Arg Ile Thr Arg His Ser Tyr Arg Asn Gly
705 710 715
tct gag gat ggg gcc ctg gcc tac aag ctg ctc atc cag act gga gac 2211
Ser Glu Asp Gly Ala Leu Ala Tyr Lys Leu Leu Ile Gln Thr Gly Asp
720 725 730
gcc cag gag cct ctg gat ttc agc cag ctg acc aca agg aag ctg gtg 2259
Ala Gln Glu Pro Leu Asp Phe Ser Gln Leu Thr Thr Arg Lys Leu Val
735 740 745
gac aga gag gga ctg att cca ccc gag ctc ttc tac atg ggg ctg acc 2307
Asp Arg Glu Gly Leu Ile Pro Pro Glu Leu Phe Tyr Met Gly Leu Thr
750 755 760 765
gtg tgg gtg agc agt gac ccc ctg ggt ctg gca gcc tca cag gcc aac 2355
Val Trp Val Ser Ser Asp Pro Leu Gly Leu Ala Ala Ser Gln Ala Asn
770 775 780
ttc tac ccc cca cct cct gaa tgg ctg cac gac aaa tac gac acc acg 2403
Phe Tyr Pro Pro Pro Pro Glu Trp Leu His Asp Lys Tyr Asp Thr Thr
785 790 795
ggg gag aac ctt cgc atc ccg cca gct cag ccc ttg gag ttt gcc cag 2451
Gly Glu Asn Leu Arg Ile Pro Pro Ala Gln Pro Leu Glu Phe Ala Gln
800 805 810
ttc ccc ttc ctg ctg cgt ggc ctc cag aag act gca gac ttt gtg gag 2499
Phe Pro Phe Leu Leu Arg Gly Leu Gln Lys Thr Ala Asp Phe Val Glu
815 820 825
gcc atc gag ggg gcc cgg gca gca tgc gca gag gcc ggc cag gct ggg 2547
Ala Ile Glu Gly Ala Arg Ala Ala Cys Ala Glu Ala Gly Gln Ala Gly
830 835 840 845
gtg cac gcc tac ccc agc ggc tcc ccc ttc ctc ttc tgg gaa cag tat 2595
Val His Ala Tyr Pro Ser Gly Ser Pro Phe Leu Phe Trp Glu Gln Tyr
850 855 860
Untitled[1][1][1].ST25痣样基底细胞癌综合征致病基因及其编码蛋白
ctg ggc ctg cgg cgc tgc ttc ctg ctg gcc gtc tgc atc ctg ctg gtg 2643
Leu Gly Leu Arg Arg Cys Phe Leu Leu Ala Val Cys Ile Leu Leu Val
865 870 875
tgc act ttc ctc gtc tgt gct ctg ctg ctc ctc aac ccc tgg acg gct 2691
Cys Thr Phe Leu Val Cys Ala Leu Leu Leu Leu Asn Pro Trp Thr Ala
880 885 890
ggc ctc ata gtg ctg gtc ctg gcg atg atg aca gtg gaa ctc ttt ggt 2739
Gly Leu Ile Val Leu Val Leu Ala Met Met Thr Val Glu Leu Phe Gly
895 900 905
atc atg ggt ttc ctg ggc atc aag ctg agt gcc atc ccc gtg gtg atc 2787
Ile Met Gly Phe Leu Gly Ile Lys Leu Ser Ala Ile Pro Val Val Ile
910 915 920 925
ctt gtg gcc tct gta ggc att ggc gtt gag ttc aca gtc cac gtg gct 2835
Leu Val Ala Ser Val Gly Ile Gly Val Glu Phe Thr Val His Val Ala
930 935 940
ctg ggc ttc ctg acc acc cag ggc agc cgg aac ctg cgg gcc gcc cat 2883
Leu Gly Phe Leu Thr Thr Gln Gly Ser Arg Asn Leu Arg Ala Ala His
945 950 955
gcc ctt gag cac aca ttt gcc ccc gtg acc gat ggg gcc atc tcc aca 2931
Ala Leu Glu His Thr Phe Ala Pro Val Thr Asp Gly Ala Ile Ser Thr
960 965 970
ttg ctg ggt ctg ctc atg ctt gct ggt tcc cac ttt gac ttc att gta 2979
Leu Leu Gly Leu Leu Met Leu Ala Gly Ser His Phe Asp Phe Ile Val
975 980 985
agg tac ttc ttt gcg gcg ctg aca gtg ctc acg ctc ctg ggc ctc ctc 3027
Arg Tyr Phe Phe Ala Ala Leu Thr Val Leu Thr Leu Leu Gly Leu Leu
990 995 1000 1005
cat gga ctc gtg ctg ctg cct gtg ctg ctg tcc atc ctg ggc ccg 3072
His Gly Leu Val Leu Leu Pro Val Leu Leu Ser Ile Leu Gly Pro
1010 1015 1020
ccg cca gag gtg ata cag atg tac aag gaa agc cca gag atc ctg 3117
Pro Pro Glu Val Ile Gln Met Tyr Lys Glu Ser Pro Glu Ile Leu
1025 1030 1035
agt cca cca gct cca cag gga ggc ggg ctt agg tgg ggg gca tcc 3162
Ser Pro Pro Ala Pro Gln Gly Gly Gly Leu Arg Trp Gly Ala Ser
1040 1045 1050
tcc tcc ctg ccc cag agc ttt gcc aga gtg act acc tcc atg acc 3207
Ser Ser Leu Pro Gln Ser Phe Ala Arg Val Thr Thr Ser Met Thr
1055 1060 1065
gtg gcc atc cac cca ccc ccc ctg cct ggt gcc tac atc cat cca 3252
Val Ala Ile His Pro Pro Pro Leu Pro Gly Ala Tyr Ile His Pro
1070 1075 1080
gcc cct gat gag ccc cct tgg tcc cct gct gcc act agc tct ggc 3297
Ala Pro Asp Glu Pro Pro Trp Ser Pro Ala Ala Thr Ser Ser Gly
1085 1090 1095
aac ctc agt tcc agg gga cca ggt cca gcc act ggg tga 3336
Asn Leu Ser Ser Arg Gly Pro Gly Pro Ala Thr Gly
1100 1105
<210>6
<211>1107
<212>PRT
<213>人
<400>6
Met Thr Arg Ser Pro Pro Leu Arg Glu Leu Pro Pro Ser Tyr Thr Pro
1 5 10 15
Untitled[1][1][1].ST25痣样基底细胞癌综合征致病基因及其编码蛋白
Pro Ala Arg Thr Ala Ala Pro Gln Ile Leu Ala Gly Ser Leu Lys Ala
20 25 30
Pro Leu Trp Leu Arg Ala Tyr Phe Gln Gly Leu Leu Phe Ser Leu Gly
35 40 45
Cys Gly Ile Gln Arg His Cys Gly Lys Val Leu Phe Leu Gly Leu Leu
50 55 60
Ala Phe Gly Ala Leu Ala Leu Gly Leu Arg Met Ala Ile Ile Glu Thr
65 70 75 80
Asn Leu Glu Gln Leu Trp Val Glu Val Gly Ser Arg Val Ser Gln Glu
85 90 95
Leu His Tyr Thr Lys Glu Lys Leu Gly Glu Glu Ala Ala Tyr Thr Ser
100 105 110
Gln Met Leu Ile Gln Thr Ala Arg Gln Glu Gly Glu Asn Ile Leu Thr
115 120 125
Pro Glu Ala Leu Gly Leu His Leu Gln Ala Ala Leu Thr Ala Ser Lys
130 135 140
Val Gln Val Ser Leu Tyr Gly Lys Ser Trp Asp Leu Asn Lys Ile Cys
145 150 155 160
Tyr Lys Ser Gly Val Pro Leu Ile Glu Asn Gly Met Ile Glu Gln Met
165 170 175
Ile Glu Lys Leu Phe Pro Cys Val Ile Leu Thr Pro Leu Asp Cys Phe
180 185 190
Trp Glu Gly Ala Lys Leu Gln Gly Gly Ser Ala Tyr Leu Pro Gly Arg
195 200 205
Pro Asp Ile Gln Trp Thr Asn Leu Asp Pro Glu Gln Leu Leu Glu Glu
210 215 220
Leu Gly Pro Phe Ala Ser Leu Glu Gly Phe Arg Glu Leu Leu Asp Lys
225 230 235 240
Ala Gln Val Gly Gln Ala Tyr Val Gly Arg Pro Cys Leu His Pro Asp
245 250 255
Asp Leu His Cys Pro Pro Ser Ala Pro Asn His His Ser Arg Gln Ala
260 265 270
Pro Asn Val Ala His Glu Leu Ser Gly Gly Cys His Gly Phe Ser His
275 280 285
Lys Phe Met His Trp Gln Glu Glu Leu Leu Leu Gly Gly Met Ala Arg
290 295 300
Asp Pro Gln Gly Glu Leu Leu Arg Ala Glu Ala Leu Gln Ser Thr Phe
Untitled[1][1][1].ST25痣样基底细胞癌综合征致病基因及其编码蛋白
305 310 315 320
Leu Leu Met Ser Pro Arg Gln Leu Tyr Glu His Phe Arg Gly Asp Tyr
325 330 335
Gln Thr His Asp Ile Gly Trp Ser Glu Glu Gln Ala Ser Thr Val Leu
340 345 350
Gln Ala Trp Gln Arg Arg Phe Val Gln Val Leu Pro Phe Leu Ala Leu
355 360 365
Gly Ile Gly Val Asp Asp Val Phe Leu Leu Ala His Ala Phe Thr Glu
370 375 380
Ala Leu Pro Gly Thr Pro Leu Gln Glu Arg Met Gly Glu Cys Leu Gln
385 390 395 400
Arg Thr Gly Thr Ser Val Val Leu Thr Ser Ile Asn Asn Met Ala Ala
405 410 415
Phe Leu Met Ala Ala Leu Val Pro Ile Pro Ala Leu Arg Ala Phe Ser
420 425 430
Leu Gln Ala Ala Ile Val Val Gly Cys Thr Phe Val Ala Val Met Leu
435 440 445
Val Phe Pro Ala Ile Leu Ser Leu Asp Leu Arg Arg Arg His Cys Gln
450 455 460
Arg Leu Asp Val Leu Cys Cys Phe Ser Ser Pro Cys Ser Ala Gln Val
465 470 475 480
Ile Gln Ile Leu Pro Gln Glu Leu Gly Asp Gly Thr Val Pro Val Gly
485 490 495
Ile Ala His Leu Thr Ala Thr Val Gln Ala Phe Thr His Cys Glu Ala
500 505 510
Ser Ser Gln His Val Val Thr Ile Leu Pro Pro Gln Ala His Leu Val
515 520 525
Pro Pro Pro Ser Asp Pro Leu Gly Ser Glu Leu Phe Ser Pro Gly Gly
530 535 540
Ser Thr Arg Asp Leu Leu Gly Gln Glu Glu Glu Thr Arg Gln Lys Ala
545 550 555 560
Ala Cys Lys Ser Leu Pro Cys Ala Arg Trp Asn Leu Ala His Phe Ala
565 570 575
Arg Tyr Gln Phe Ala Pro Leu Leu Leu Gln Ser His Ala Lys Ala Ile
580 585 590
Val Leu Val Leu Phe Gly Ala Leu Leu Gly Leu Ser Leu Tyr Gly Ala
595 600 605
Untitled[1][1][1].ST25痣样基底细胞癌综合征致病基因及其编码蛋白
Thr Leu Val Gln Asp Gly Leu Ala Leu Thr Asp Val Val Pro Arg Gly
610 615 620
Thr Lys Glu His Ala Phe Leu Ser Ala Gln Leu Arg Tyr Phe Ser Leu
625 630 635 640
Tyr Glu Val Ala Leu Val Thr Gln Gly Gly Phe Asp Tyr Ala His Ser
645 650 655
Gln Arg Ala Leu Phe Asp Leu His Gln Arg Phe Ser Ser Leu Lys Ala
660 665 670
Val Leu Pro Pro Pro Ala Thr Gln Ala Pro Arg Thr Trp Leu His Tyr
675 680 685
Tyr Arg Asn Trp Leu Gln Gly Ile Gln Ala Ala Phe Asp Gln Asp Trp
690 695 700
Ala Ser Gly Arg Ile Thr Arg His Ser Tyr Arg Asn Gly Ser Glu Asp
705 710 715 720
Gly Ala Leu Ala Tyr Lys Leu Leu Ile Gln Thr Gly Asp Ala Gln Glu
725 730 735
Pro Leu Asp Phe Ser Gln Leu Thr Thr Arg Lys Leu Val Asp Arg Glu
740 745 750
Gly Leu Ile Pro Pro Glu Leu Phe Tyr Met Gly Leu Thr Val Trp Val
755 760 765
Ser Ser Asp Pro Leu Gly Leu Ala Ala Ser Gln Ala Asn Phe Tyr Pro
770 775 780
Pro Pro Pro Glu Trp Leu His Asp Lys Tyr Asp Thr Thr Gly Glu Asn
785 790 795 800
Leu Arg Ile Pro Pro Ala Gln Pro Leu Glu Phe Ala Gln Phe Pro Phe
805 810 815
Leu Leu Arg Gly Leu Gln Lys Thr Ala Asp Phe Val Glu Ala Ile Glu
820 825 830
Gly Ala Arg Ala Ala Cys Ala Glu Ala Gly Gln Ala Gly Val His Ala
835 840 845
Tyr Pro Ser Gly Ser Pro Phe Leu Phe Trp Glu Gln Tyr Leu Gly Leu
850 855 860
Arg Arg Cys Phe Leu Leu Ala Val Cys Ile Leu Leu Val Cys Thr Phe
865 870 875 880
Leu Val Cys Ala Leu Leu Leu Leu Asn Pro Trp Thr Ala Gly Leu Ile
885 890 895
Val Leu Val Leu Ala Met Met Thr Val Glu Leu Phe Gly Ile Met Gly
900 905 910
Untitled[1][1][1].ST25痣样基底细胞癌综合征致病基因及其编码蛋白
Phe Leu Gly Ile Lys Leu Ser Ala Ile Pro Val Val Ile Leu Val Ala
915 920 925
Ser Val Gly Ile Gly Val Glu Phe Thr Val His Val Ala Leu Gly Phe
930 935 940
Leu Thr Thr Gln Gly Ser Arg Asn Leu Arg Ala Ala His Ala Leu Glu
945 950 955 960
His Thr Phe Ala Pro Val Thr Asp Gly Ala Ile Ser Thr Leu Leu Gly
965 970 975
Leu Leu Met Leu Ala Gly Ser His Phe Asp Phe Ile Val Arg Tyr Phe
980 985 990
Phe Ala Ala Leu Thr Val Leu Thr Leu Leu Gly Leu Leu His Gly Leu
995 1000 1005
Val Leu Leu Pro Val Leu Leu Ser Ile Leu Gly Pro Pro Pro Glu
1010 1015 1020
Val Ile Gln Met Tyr Lys Glu Ser Pro Glu Ile Leu Ser Pro Pro
1025 1030 1035
Ala Pro Gln Gly Gly Gly Leu Arg Trp Gly Ala Ser Ser Ser Leu
1040 1045 1050
Pro Gln Ser Phe Ala Arg Val Thr Thr Ser Met Thr Val Ala Ile
1055 1060 1065
His Pro Pro Pro Leu Pro Gly Ala Tyr Ile His Pro Ala Pro Asp
1070 1075 1080
Glu Pro Pro Trp Ser Pro Ala Ala Thr Ser Ser Gly Asn Leu Ser
1085 1090 1095
Ser Arg Gly Pro Gly Pro Ala Thr Gly
1100 1105
<210>7
<211>3336
<212>DNA
<213>人
<220>
<221>CDS
<222>(13)..(3333)
<223>
<400>7
atccccgcca gc atg act cga tcg ccg ccc ctc aga gag ctg ccc ccg agt 51
Met Thr Arg Ser Pro Pro Leu Arg Glu Leu Pro Pro Ser
1 5 10
tac aca ccc cca gct cga acc gca gca ccc cag atc cta gct ggg agc 99
Tyr Thr Pro Pro Ala Arg Thr Ala Ala Pro Gln Ile Leu Ala Gly Ser
15 20 25
ctg aag gct cca ctc tgg ctt cgt gct tac ttc cag ggc ctg ctc ttc 147
Leu Lys Ala Pro Leu Trp Leu Arg Ala Tyr Phe Gln Gly Leu Leu Phe
30 35 40 45
Untitled[1][1][1].ST25痣样基底细胞癌综合征致病基因及其编码蛋白
tct ctg gga tgc ggg atc cag aga cat tgt ggc aaa gtg ctc ttt ctg 195
Ser Leu Gly Cys Gly Ile Gln Arg His Cys Gly Lys Val Leu Phe Leu
50 55 60
gga ctg ttg gcc ttt ggg gcc ctg gca tta ggt ctc cgc atg gcc att 243
Gly Leu Leu Ala Phe Gly Ala Leu Ala Leu Gly Leu Arg Met Ala Ile
65 70 75
att gag aca aac ttg gaa cag ctc tgg gta gaa gtg ggc agc cgg gtg 291
Ile Glu Thr Asn Leu Glu Gln Leu Trp Val Glu Val Gly Ser Arg Val
80 85 90
agc cag gag ctg cat tac acc aag gag aag ctg ggg gag gag gct gca 339
Ser Gln Glu Leu His Tyr Thr Lys Glu Lys Leu Gly Glu Glu Ala Ala
95 100 105
tac acc tct cag atg ctg ata cag acc gca cgc cag gag gga gag aac 387
Tyr Thr Ser Gln Met Leu Ile Gln Thr Ala Arg Gln Glu Gly Glu Asn
110 115 120 125
atc ctc aca ccc gaa gca ctt ggc ctc cac ctc cag gca gcc ctc act 435
Ile Leu Thr Pro Glu Ala Leu Gly Leu His Leu Gln Ala Ala Leu Thr
130 135 140
gcc agt aaa gtc caa gta tca ctc tat ggg aag tcc tgg gat ttg aac 483
Ala Ser Lys Val Gln Val Ser Leu Tyr Gly Lys Ser Trp Asp Leu Asn
145 150 155
aaa atc tgc tac aag tca gga gtt ccc ctt att gaa aat gga atg att 531
Lys Ile Cys Tyr Lys Ser Gly Val Pro Leu Ile Glu Asn Gly Met Ile
160 165 170
gag cag atg att gag aag ctg ttt ccg tgc gtg atc ctc acc ccc ctc 579
Glu Gln Met Ile Glu Lys Leu Phe Pro Cys Val Ile Leu Thr Pro Leu
175 180 185
gac tgc ttc tgg gag gga gcc aaa ctc caa ggg ggc tcc gcc tac ctg 627
Asp Cys Phe Trp Glu Gly Ala Lys Leu Gln Gly Gly Ser Ala Tyr Leu
190 195 200 205
ccc ggc cgc ccg gat atc cag tgg acc aac ctg gat cca gag cag ctg 675
Pro Gly Arg Pro Asp Ile Gln Trp Thr Asn Leu Asp Pro Glu Gln Leu
210 215 220
ctg gag gag ctg ggt ccc ttt gcc tcc ctt gag ggc ttc cgg gag ctg 723
Leu Glu Glu Leu Gly Pro Phe Ala Ser Leu Glu Gly Phe Arg Glu Leu
225 230 235
cta gac aag gca cag gtg ggc cag gcc tac gtg ggg cgg ccc tgt ctg 771
Leu Asp Lys Ala Gln Val Gly Gln Ala Tyr Val Gly Arg Pro Cys Leu
240 245 250
cac cct gat gac ctc cac tgc cca cct agt gcc ccc aac cat cac agc 819
His Pro Asp Asp Leu His Cys Pro Pro Ser Ala Pro Asn His His Ser
255 260 265
agg cag gct ccc aat gtg gct cac gag ctg agt ggg ggc tgc cat ggc 867
Arg Gln Ala Pro Asn Val Ala His Glu Leu Ser Gly Gly Cys His Gly
270 275 280 285
ttc tcc cac aaa ttc atg cac tgg cag gag gaa ttg ctg ctg gga ggc 915
Phe Ser His Lys Phe Met His Trp Gln Glu Glu Leu Leu Leu Gly Gly
290 295 300
atg gcc aga gac ccc caa gga gag ctg ctg agg gca gag gcc ctg cag 963
Met Ala Arg Asp Pro Gln Gly Glu Leu Leu Arg Ala Glu Ala Leu Gln
305 310 315
agc acc ttc ttg ctg atg agt ccc cgc cag ctg tac gag cat ttc cgg 1011
Ser Thr Phe Leu Leu Met Ser Pro Arg Gln Leu Tyr Glu His Phe Arg
320 325 330
ggt gac tat cag aca cat gac att ggc tgg agt gag gag cag gcc agc 1059
Gly Asp Tyr Gln Thr His Asp Ile Gly Trp Ser Glu Glu Gln Ala Ser
Untitled[1][1][1].ST25痣样基底细胞癌综合征致病基因及其编码蛋白
335 340 345
aca gtg cta caa gcc tgg cag cgg cgc ttt gtg cag gtg ctg ccc ttc 1107
Thr Val Leu Gln Ala Trp Gln Arg Arg Phe Val Gln Val Leu Pro Phe
350 355 360 365
ttg gct ctg gga atc ggc gtg gat gac gta ttc ctg ctg gcg cat gcc 1155
Leu Ala Leu Gly Ile Gly Val Asp Asp Val Phe Leu Leu Ala His Ala
370 375 380
ttc aca gag gct ctg cct ggc acc cct ctc cag gag cgc atg ggc gag 1203
Phe Thr Glu Ala Leu Pro Gly Thr Pro Leu Gln Glu Arg Met Gly Glu
385 390 395
tgt ctg cag cgc acg ggc acc agt gtc gta ctc aca tcc atc aac aac 1251
Cys Leu Gln Arg Thr Gly Thr Ser Val Val Leu Thr Ser Ile Asn Asn
400 405 410
atg gcc gcc ttc ctc atg gct gcc ctc gtt ccc atc cct gcg ctg cga 1299
Met Ala Ala Phe Leu Met Ala Ala Leu Val Pro Ile Pro Ala Leu Arg
415 420 425
gcc ttc tcc cta cag gcg gcc ata gtg gtt ggc tgc acc ttt gta gcc 1347
Ala Phe Ser Leu Gln Ala Ala Ile Val Val Gly Cys Thr Phe Val Ala
430 435 440 445
gtg atg ctt gtc ttc cca gcc atc ctc agc ctg gac cta cgg cgg cgc 1395
Val Met Leu Val Phe Pro Ala Ile Leu Ser Leu Asp Leu Arg Arg Arg
450 455 460
cac tgc cag cgc ctt gat gtg ctc tgc tgc ttc tcc agt ccc tgc tct 1443
His Cys Gln Arg Leu Asp Val Leu Cys Cys Phe Ser Ser Pro Cys Ser
465 470 475
gct cag gtg att cag atc ctg ccc cag gag ctg ggg gac ggg aca gta 1491
Ala Gln Val Ile Gln Ile Leu Pro Gln Glu Leu Gly Asp Gly Thr Val
480 485 490
cca gtg ggc att gcc cac ctc act gcc aca gtt caa gcc ttt acc cac 1539
Pro Val Gly Ile Ala His Leu Thr Ala Thr Val Gln Ala Phe Thr His
495 500 505
tgt gaa gcc agc agc cag cat gtg gtc acc atc ctg cct ccc caa gcc 1587
Cys Glu Ala Ser Ser Gln His Val Val Thr Ile Leu Pro Pro Gln Ala
510 515 520 525
cac ctg gtg ccc cca cct tct gac cca ctg ggc tct gag ctc ttc agc 1635
His Leu Val Pro Pro Pro Ser Asp Pro Leu Gly Ser Glu Leu Phe Ser
530 535 540
cct gga ggg tcc aca cgg gac ctt cta ggc cag gag gag gag aca agg 1683
Pro Gly Gly Ser Thr Arg Asp Leu Leu Gly Gln Glu Glu Glu Thr Arg
545 550 555
cag aag gca gcc tgc aag tcc ctg ccc tgt gcc cgc tgg aat ctt gcc 1731
Gln Lys Ala Ala Cys Lys Ser Leu Pro Cys Ala Arg Trp Asn Leu Ala
560 565 570
cat ttc gcc cgc tat cag ttt gcc ccg ttg ctg ctc cag tca cat gct 1779
His Phe Ala Arg Tyr Gln Phe Ala Pro Leu Leu Leu Gln Ser His Ala
575 580 585
aag gcc atc gtg ctg gtg ctc ttt ggt gct ctt ctg ggc ctg agc ctc 1827
Lys Ala Ile Val Leu Val Leu Phe Gly Ala Leu Leu Gly Leu Ser Leu
590 595 600 605
tac gga gcc acc ttg gtg caa gac ggc ctg gcc ctg acg gat gtg gtg 1875
Tyr Gly Ala Thr Leu Val Gln Asp Gly Leu Ala Leu Thr Asp Val Val
610 615 620
cct cag ggc acc aag gag cat gcc ttc ctg agc gcc cag ctc agg tac 1923
Pro Gln Gly Thr Lys Glu His Ala Phe Leu Ser Ala Gln Leu Arg Tyr
625 630 635
ttc tcc ctg tac gag gtg gcc ctg gtg acc cag ggt ggc ttt gac tac 1971
Untitled[1][1][1].ST25痣样基底细胞癌综合征致病基因及其编码蛋白
Phe Ser Leu Tyr Glu Val Ala Leu Val Thr Gln Gly Gly Phe Asp Tyr
640 645 650
gcc cac tcc caa cgc gcc ctc ttt gat ctg cac cag cgc ttc agt tcc 2019
Ala His Ser Gln Arg Ala Leu Phe Asp Leu His Gln Arg Phe Ser Ser
655 660 665
ctc aag gcg gtg ctg ccc cca ccg gcc acc cag gca ccc cgc acc tgg 2067
Leu Lys Ala Val Leu Pro Pro Pro Ala Thr Gln Ala Pro Arg Thr Trp
670 675 680 685
ctg cac tat tac cgc aac tgg cta cag gga atc cag gct gcc ttt gac 2115
Leu His Tyr Tyr Arg Asn Trp Leu Gln Gly Ile Gln Ala Ala Phe Asp
690 695 700
cag gac tgg gct tct ggg cgc atc acc cgc cac tcg tac cgc aat ggc 2163
Gln Asp Trp Ala Ser Gly Arg Ile Thr Arg His Ser Tyr Arg Asn Gly
705 710 715
tct gag gat ggg gcc ctg gcc tac aag ctg ctc atc cag act gga gac 2211
Ser Glu Asp Gly Ala Leu Ala Tyr Lys Leu Leu Ile Gln Thr Gly Asp
720 725 730
gcc cag gag cct ctg gat ttc agc cag ctg acc aca agg aag ctg gtg 2259
Ala Gln Glu Pro Leu Asp Phe Ser Gln Leu Thr Thr Arg Lys Leu Val
735 740 745
gac aga gag gga ctg att cca ccc gag ctc ttc tac atg ggg ctg acc 2307
Asp Arg Glu Gly Leu Ile Pro Pro Glu Leu Phe Tyr Met Gly Leu Thr
750 755 760 765
gtg tgg gtg agc agt gac ccc ctg ggt ctg gca gcc tca cag gcc aac 2355
Val Trp Val Ser Ser Asp Pro Leu Gly Leu Ala Ala Ser Gln Ala Asn
770 775 780
ttc tac ccc cca cct cct gaa tgg ctg cac gac aaa tac gac acc acg 2403
Phe Tyr Pro Pro Pro Pro Glu Trp Leu His Asp Lys Tyr Asp Thr Thr
785 790 795
ggg gag aac ctt cgc atc ccg cca gct cag ccc ttg gag ttt gcc cag 2451
Gly Glu Asn Leu Arg Ile Pro Pro Ala Gln Pro Leu Glu Phe Ala Gln
800 805 810
ttc ccc ttc ctg ctg cgt ggc ctc cag aag act gca gac ttt gtg gag 2499
Phe Pro Phe Leu Leu Arg Gly Leu Gln Lys Thr Ala Asp Phe Val Glu
815 820 825
gcc atc gag ggg gcc cgg gca gca tgc gca gag gcc ggc cag gct ggg 2547
Ala Ile Glu Gly Ala Arg Ala Ala Cys Ala Glu Ala Gly Gln Ala Gly
830 835 840 845
gtg cac gcc tac ccc agc ggc tcc ccc ttc ctc ttc tgg gaa cag tat 2595
Val His Ala Tyr Pro Ser Gly Ser Pro Phe Leu Phe Trp Glu Gln Tyr
850 855 860
ctg ggc ctg cgg cgc tgc ttc ctg ctg gcc gtc tgc atc ctg ctg gtg 2643
Leu Gly Leu Arg Arg Cys Phe Leu Leu Ala Val Cys Ile Leu Leu Val
865 870 875
tgc act ttc ctc gtc tgt gct ctg ctg ctc ctc aac ccc tgg acg gct 2691
Cys Thr Phe Leu Val Cys Ala Leu Leu Leu Leu Asn Pro Trp Thr Ala
880 885 890
ggc ctc ata gtg ctg gtc ctg gcg atg atg aca gtg gaa ctc ttt ggt 2739
Gly Leu Ile Val Leu Val Leu Ala Met Met Thr Val Glu Leu Phe Gly
895 900 905
atc atg ggt ttc ctg ggc atc aag ctg agt gcc atc ccc gtg gtg atc 2787
Ile Met Gly Phe Leu Gly Ile Lys Leu Ser Ala Ile Pro Val Val Ile
910 915 920 925
ctt gtg gcc tct gta ggc att ggc gtt gag ttc aca gtc cac gtg gct 2835
Leu Val Ala Ser Val Gly Ile Gly Val Glu Phe Thr Val His Val Ala
930 935 940
Untitled[1][1][1].ST25痣样基底细胞癌综合征致病基因及其编码蛋白
ctg ggc ttc ctg acc acc cag ggc agc cgg aac ctg cgg gcc gcc cat 2883
Leu Gly Phe Leu Thr Thr Gln Gly Ser Arg Asn Leu Arg Ala Ala His
945 950 955
gcc ctt gag cac aca ttt gcc ccc gtg acc gat ggg gcc atc tcc aca 2931
Ala Leu Glu His Thr Phe Ala Pro Val Thr Asp Gly Ala Ile Ser Thr
960 965 970
ttg ctg ggt ctg ctc atg ctt gct ggt tcc cac ttt gac ttc att gta 2979
Leu Leu Gly Leu Leu Met Leu Ala Gly Ser His Phe Asp Phe Ile Val
975 980 985
agg tac ttc ttt gcg gcg ctg aca gtg ctc acg ctc ctg ggc ctc ctc 3027
Arg Tyr Phe Phe Ala Ala Leu Thr Val Leu Thr Leu Leu Gly Leu Leu
990 995 1000 1005
cat gga ctc gtg ctg ctg cct gtg ctg ctg tcc atc ctg ggc ccg 3072
His Gly Leu Val Leu Leu Pro Val Leu Leu Ser Ile Leu Gly Pro
1010 1015 1020
ccg cca gag gtg ata cag atg tac aag gaa agc cca gag atc ctg 3117
Pro Pro Glu Val Ile Gln Met Tyr Lys Glu Ser Pro Glu Ile Leu
1025 1030 1035
agt cca cca gct cca cag gga ggc ggg ctt agg tgg ggg gca tcc 3162
Ser Pro Pro Ala Pro Gln Gly Gly Gly Leu Arg Trp Gly Ala Ser
1040 1045 1050
tcc tcc ctg ccc cag agc ttt gcc aga gtg act acc tcc atg acc 3207
Ser Ser Leu Pro Gln Ser Phe Ala Arg Val Thr Thr Ser Met Thr
1055 1060 1065
gtg gcc atc cac cca ccc ccc ctg cct ggt gcc tac atc cat cca 3252
Val Ala Ile His Pro Pro Pro Leu Pro Gly Ala Tyr Ile His Pro
1070 1075 1080
gcc cct gat gag ccc cct tgg tcc cct gct gcc act agc tct ggc 3297
Ala Pro Asp Glu Pro Pro Trp Ser Pro Ala Ala Thr Ser Ser Gly
1085 1090 1095
aac ctc agt tcc agg gga cca ggt cca gcc act ggg tga 3336
Asn Leu Ser Ser Arg Gly Pro Gly Pro Ala Thr Gly
1100 1105
<210>8
<211>1107
<212>PRT
<213>人
<400>8
Met Thr Arg Ser Pro Pro Leu Arg Glu Leu Pro Pro Ser Tyr Thr Pro
1 5 10 15
Pro Ala Arg Thr Ala Ala Pro Gln Ile Leu Ala Gly Ser Leu Lys Ala
20 25 30
Pro Leu Trp Leu Arg Ala Tyr Phe Gln Gly Leu Leu Phe Ser Leu Gly
35 40 45
Cys Gly Ile Gln Arg His Cys Gly Lys Val Leu Phe Leu Gly Leu Leu
50 55 60
Ala Phe Gly Ala Leu Ala Leu Gly Leu Arg Met Ala Ile Ile Glu Thr
65 70 75 80
Asn Leu Glu Gln Leu Trp Val Glu Val Gly Ser Arg Val Ser Gln Glu
85 90 95
Untitled[1][1][1].ST25痣样基底细胞癌综合征致病基因及其编码蛋白
Leu His Tyr Thr Lys Glu Lys Leu Gly Glu Glu Ala Ala Tyr Thr Ser
100 105 110
Gln Met Leu Ile Gln Thr Ala Arg Gln Glu Gly Glu Asn Ile Leu Thr
115 120 125
Pro Glu Ala Leu Gly Leu His Leu Gln Ala Ala Leu Thr Ala Ser Lys
130 135 140
Val Gln Val Ser Leu Tyr Gly Lys Ser Trp Asp Leu Asn Lys Ile Cys
145 150 155 160
Tyr Lys Ser Gly Val Pro Leu Ile Glu Asn Gly Met Ile Glu Gln Met
165 170 175
Ile Glu Lys Leu Phe Pro Cys Val Ile Leu Thr Pro Leu Asp Cys Phe
180 185 190
Trp Glu Gly Ala Lys Leu Gln Gly Gly Ser Ala Tyr Leu Pro Gly Arg
195 200 205
Pro Asp Ile Gln Trp Thr Asn Leu Asp Pro Glu Gln Leu Leu Glu Glu
210 215 220
Leu Gly Pro Phe Ala Ser Leu Glu Gly Phe Arg Glu Leu Leu Asp Lys
225 230 235 240
Ala Gln Val Gly Gln Ala Tyr Val Gly Arg Pro Cys Leu His Pro Asp
245 250 255
Asp Leu His Cys Pro Pro Ser Ala Pro Asn His His Ser Arg Gln Ala
260 265 270
Pro Asn Val Ala His Glu Leu Ser Gly Gly Cys His Gly Phe Ser His
275 280 285
Lys Phe Met His Trp Gln Glu Glu Leu Leu Leu Gly Gly Met Ala Arg
290 295 300
Asp Pro Gln Gly Glu Leu Leu Arg Ala Glu Ala Leu Gln Ser Thr Phe
305 310 315 320
Leu Leu Met Ser Pro Arg Gln Leu Tyr Glu His Phe Arg Gly Asp Tyr
325 330 335
Gln Thr His Asp Ile Gly Trp Ser Glu Glu Gln Ala Ser Thr Val Leu
340 345 350
Gln Ala Trp Gln Arg Arg Phe Val Gln Val Leu Pro Phe Leu Ala Leu
355 360 365
Gly Ile Gly Val Asp Asp Val Phe Leu Leu Ala His Ala Phe Thr Glu
370 375 380
Ala Leu Pro Gly Thr Pro Leu Gln Glu Arg Met Gly Glu Cys Leu Gln
385 390 395 400
Untitled[1][1][1].ST25痣样基底细胞癌综合征致病基因及其编码蛋白
Arg Thr Gly Thr Ser Val Val Leu Thr Ser Ile Asn Asn Met Ala Ala
405 410 415
Phe Leu Met Ala Ala Leu Val Pro Ile Pro Ala Leu Arg Ala Phe Ser
420 425 430
Leu Gln Ala Ala Ile Val Val Gly Cys Thr Phe Val Ala Val Met Leu
435 440 445
Val Phe Pro Ala Ile Leu Ser Leu Asp Leu Arg Arg Arg His Cys Gln
450 455 460
Arg Leu Asp Val Leu Cys Cys Phe Ser Ser Pro Cys Ser Ala Gln Val
465 470 475 480
Ile Gln Ile Leu Pro Gln Glu Leu Gly Asp Gly Thr Val Pro Val Gly
485 490 495
Ile Ala His Leu Thr Ala Thr Val Gln Ala Phe Thr His Cys Glu Ala
500 505 510
Ser Ser Gln His Val Val Thr Ile Leu Pro Pro Gln Ala His Leu Val
515 520 525
Pro Pro Pro Ser Asp Pro Leu Gly Ser Glu Leu Phe Ser Pro Gly Gly
530 535 540
Ser Thr Arg Asp Leu Leu Gly Gln Glu Glu Glu Thr Arg Gln Lys Ala
545 550 555 560
Ala Cys Lys Ser Leu Pro Cys Ala Arg Trp Asn Leu Ala His Phe Ala
565 570 575
Arg Tyr Gln Phe Ala Pro Leu Leu Leu Gln Ser His Ala Lys Ala Ile
580 585 590
Val Leu Val Leu Phe Gly Ala Leu Leu Gly Leu Ser Leu Tyr Gly Ala
595 600 605
Thr Leu Val Gln Asp Gly Leu Ala Leu Thr Asp Val Val Pro Gln Gly
610 615 620
Thr Lys Glu His Ala Phe Leu Ser Ala Gln Leu Arg Tyr Phe Ser Leu
625 630 635 640
Tyr Glu Val Ala Leu Val Thr Gln Gly Gly Phe Asp Tyr Ala His Ser
645 650 655
Gln Arg Ala Leu Phe Asp Leu His Gln Arg Phe Ser Ser Leu Lys Ala
660 665 670
Val Leu Pro Pro Pro Ala Thr Gln Ala Pro Arg Thr Trp Leu His Tyr
675 680 685
Tyr Arg Asn Trp Leu Gln Gly Ile Gln Ala Ala Phe Asp Gln Asp Trp
Untitled[1][1][1].ST25痣样基底细胞癌综合征致病基因及其编码蛋白
690 695 700
Ala Ser Gly Arg Ile Thr Arg Hi s Ser Tyr Arg Asn Gly Ser Glu Asp
705 710 715 720
Gly Ala Leu Ala Tyr Lys Leu Leu Ile Gln Thr Gly Asp Ala Gln Glu
725 730 735
Pro Leu Asp Phe Ser Gln Leu Thr Thr Arg Lys Leu Val Asp Arg Glu
740 745 750
Gly Leu Ile Pro Pro Glu Leu Phe Tyr Met Gly Leu Thr Val Trp Val
755 760 765
Ser Ser Asp Pro Leu Gly Leu Ala Ala Ser Gln Ala Asn Phe Tyr Pro
770 775 780
Pro Pro Pro Glu Trp Leu His Asp Lys Tyr Asp Thr Thr Gly Glu Asn
785 790 795 800
Leu Arg Ile Pro Pro Ala Gln Pro Leu Glu Phe Ala Gln Phe Pro Phe
805 810 815
Leu Leu Arg Gly Leu Gln Lys Thr Ala Asp Phe Val Glu Ala Ile Glu
820 825 830
Gly Ala Arg Ala Ala Cys Ala Glu Ala Gly Gln Ala Gly Val His Ala
835 840 845
Tyr Pro Ser Gly Ser Pro Phe Leu Phe Trp Glu Gln Tyr Leu Gly Leu
850 855 860
Arg Arg Cys Phe Leu Leu Ala Val Cys Ile Leu Leu Val Cys Thr Phe
865 870 875 880
Leu Val Cys Ala Leu Leu Leu Leu Asn Pro Trp Thr Ala Gly Leu Ile
885 890 895
Val Leu Val Leu Ala Met Met Thr Val Glu Leu Phe Gly Ile Met Gly
900 905 910
Phe Leu Gly Ile Lys Leu Ser Ala Ile Pro Val Val Ile Leu Val Ala
915 920 925
Ser Val Gly Ile Gly Val Glu Phe Thr Val His Val Ala Leu Gly Phe
930 935 940
Leu Thr Thr Gln Gly Ser Arg Asn Leu Arg Ala Ala His Ala Leu Glu
945 950 955 960
His Thr Phe Ala Pro Val Thr Asp Gly Ala Ile Ser Thr Leu Leu Gly
965 970 975
Leu Leu Met Leu Ala Gly Ser His Phe Asp Phe Ile Val Arg Tyr Phe
980 985 990
Untitled[1][1][1].ST25痣样基底细胞癌综合征致病基因及其编码蛋白
Phe Ala Ala Leu Thr Val Leu Thr Leu Leu Gly Leu Leu His Gly Leu
995 1000 1005
Val Leu Leu Pro Val Leu Leu Ser Ile Leu Gly Pro Pro Pro Glu
1010 1015 1020
Val Ile Gln Met Tyr Lys Glu Ser Pro Glu Ile Leu Ser Pro Pro
1025 1030 1035
Ala Pro Gln Gly Gly Gly Leu Arg Trp Gly Ala Ser Ser Ser Leu
1040 1045 1050
Pro Gln Ser Phe Ala Arg Val Thr Thr Ser Met Thr Val Ala Ile
1055 1060 1065
His Pro Pro Pro Leu Pro Gly Ala Tyr Ile His Pro Ala Pro Asp
1070 1075 1080
Glu Pro Pro Trp Ser Pro Ala Ala Thr Ser Ser Gly Asn Leu Ser
1085 1090 1095
Ser Arg Gly Pro Gly Pro Ala Thr Gly
1100 1105
<210>9
<211>3524
<212>DNA
<213>人
<220>
<221>CDS
<222>(13)..(3270)
<223>
<400>9
atccccgcca gc atg act cga tcg ccg ccc ctc aga gag ctg ccc ccg agt 51
Met Thr Arg Ser Pro Pro Leu Arg Glu Leu Pro Pro Ser
1 5 10
tac aca ccc cca gct cga acc gca gca ccc cag atc cta gct ggg agc 99
Tyr Thr Pro Pro Ala Arg Thr Ala Ala Pro Gln Ile Leu Ala Gly Ser
15 20 25
ctg aag gct cca ctc tgg ctt cgt gct tac ttc cag ggc ctg ctc ttc 147
Leu Lys Ala Pro Leu Trp Leu Arg Ala Tyr Phe Gln Gly Leu Leu Phe
30 35 40 45
tct ctg gga tgc ggg atc cag aga cat tgt ggc aaa gtg ctc ttt ctg 195
Ser Leu Gly Cys Gly Ile Gln Arg His Cys Gly Lys Val Leu Phe Leu
50 55 60
gga ctg ttg gcc ttt ggg gcc ctg gca tta ggt ctc cgc atg gcc att 243
Gly Leu Leu Ala Phe Gly Ala Leu Ala Leu Gly Leu Arg Met Ala Ile
65 70 75
att gag aca aac ttg gaa cag ctc tgg gta gaa gtg ggc agc cgg gtg 291
Ile Glu Thr Asn Leu Glu Gln Leu Trp Val Glu Val Gly Ser Arg Val
80 85 90
agc cag gag ctg cat tac acc aag gag aag ctg ggg gag gag gct gca 339
Ser Gln Glu Leu His Tyr Thr Lys Glu Lys Leu Gly Glu Glu Ala Ala
95 100 105
tac acc tct cag atg ctg ata cag acc gca cgc cag gag gga gag aac 387
Tyr Thr Ser Gln Met Leu Ile Gln Thr Ala Arg Gln Glu Gly Glu Asn
110 115 120 125
Untitled[1][1][1].ST25痣样基底细胞癌综合征致病基因及其编码蛋白
atc ctc aca ccc gaa gca ctt ggc ctc cac ctc cag gca gcc ctc act 435
Ile Leu Thr Pro Glu Ala Leu Gly Leu His Leu Gln Ala Ala Leu Thr
130 135 140
gcc agt aaa gtc caa gta tca ctc tat ggg aag tcc tgg gat ttg aac 483
Ala Ser Lys Val Gln Val Ser Leu Tyr Gly Lys Ser Trp Asp Leu Asn
145 150 155
aaa atc tgc tac aag tca gga gtt ccc ctt att gaa aat gga atg att 531
Lys Ile Cys Tyr Lys Ser Gly Val Pro Leu Ile Glu Asn Gly Met Ile
160 165 170
gag cgg atg att gag aag ctg ttt ccg tgc gtg atc ctc acc ccc ctc 579
Glu Arg Met Ile Glu Lys Leu Phe Pro Cys Val Ile Leu Thr Pro Leu
175 180 185
gac tgc ttc tgg gag gga gcc aaa ctc caa ggg ggc tcc gcc tac ctg 627
Asp Cys Phe Trp Glu Gly Ala Lys Leu Gln Gly Gly Ser Ala Tyr Leu
190 195 200 205
ccc ggc cgc ccg gat atc cag tgg acc aac ctg gat cca gag cag ctg 675
Pro Gly Arg Pro Asp Ile Gln Trp Thr Asn Leu Asp Pro Glu Gln Leu
210 215 220
ctg gag gag ctg ggt ccc ttt gcc tcc ctt gag ggc ttc cgg gag ctg 723
Leu Glu Glu Leu Gly Pro Phe Ala Ser Leu Glu Gly Phe Arg Glu Leu
225 230 235
cta gac aag gca cag gtg ggc cag gcc tac gtg ggg cgg ccc tgt ctg 771
Leu Asp Lys Ala Gln Val Gly Gln Ala Tyr Val Gly Arg Pro Cys Leu
240 245 250
cac cct gat gac ctc cac tgc cca cct agt gcc ccc aac cat cac agc 819
His Pro Asp Asp Leu His Cys Pro Pro Ser Ala Pro Asn His His Ser
255 260 265
agg cag gct ccc aat gtg gct cac gag ctg agt ggg ggc tgc cat ggc 867
Arg Gln Ala Pro Asn Val Ala His Glu Leu Ser Gly Gly Cys His Gly
270 275 280 285
ttc tcc cac aaa ttc atg cac tgg cag gag gaa ttg ctg ctg gga ggc 915
Phe Ser His Lys Phe Met His Trp Gln Glu Glu Leu Leu Leu Gly Gly
290 295 300
atg gcc aga gac ccc caa gga gag ctg ctg agg gca gag gcc ctg cag 963
Met Ala Arg Asp Pro Gln Gly Glu Leu Leu Arg Ala Glu Ala Leu Gln
305 310 315
agc acc ttc ttg ctg atg agt ccc cgc cag ctg tac gag cat ttc cgg 1011
Ser Thr Phe Leu Leu Met Ser Pro Arg Gln Leu Tyr Glu His Phe Arg
320 325 330
ggt gac tat cag aca cat gac att ggc tgg agt gag gag cag gcc agc 1059
Gly Asp Tyr Gln Thr His Asp Ile Gly Trp Ser Glu Glu Gln Ala Ser
335 340 345
aca gtg cta caa gcc tgg cag cgg cgc ttt gtg cag ctg gcc cag gag 1107
Thr Val Leu Gln Ala Trp Gln Arg Arg Phe Val Gln Leu Ala Gln Glu
350 355 360 365
gcc ctg cct gag aac gct tcc cag cag atc cat gcc ttc tcc tcc acc 1155
Ala Leu Pro Glu Asn Ala Ser Gln Gln Ile His Ala Phe Ser Ser Thr
370 375 380
acc ctg gat gac atc ctg cat gcg ttc tct gaa gtc agt gct gcc cgt 1203
Thr Leu Asp Asp Ile Leu His Ala Phe Ser Glu Val Ser Ala Ala Arg
385 390 395
gtg gtg gga ggc tat ctg ctc atg ctg gcc tat gcc tgt gtg acc atg 1251
Val Val Gly Gly Tyr Leu Leu Met Leu Ala Tyr Ala Cys Val Thr Met
400 405 410
ctg cgg tgg gac tgc gcc cag tcc cag ggt tcc gtg ggc ctt gcc ggg 1299
Leu Arg Trp Asp Cys Ala Gln Ser Gln Gly Ser Val Gly Leu Ala Gly
415 420 425
Untitled[1][1][1].ST25痣样基底细胞癌综合征致病基因及其编码蛋白
gta ctg ctg gtg gcc ctg gcg gtg gcc tca ggc ctt ggg ctc tgt gcc 1347
Val Leu Leu Val Ala Leu Ala Val Ala Ser Gly Leu Gly Leu Cys Ala
430 435 440 445
ctg ctc ggc atc acc ttc aat gct gcc act acc cag gtg ctg ccc ttc 1395
Leu Leu Gly Ile Thr Phe Asn Ala Ala Thr Thr Gln Val Leu Pro Phe
450 455 460
ttg gct ctg gga atc ggc gtg gat gac gta ttc ctg ctg gcg cat gcc 1443
Leu Ala Leu Gly Ile Gly Val Asp Asp Val Phe Leu Leu Ala His Ala
465 470 475
ttc aca gag gct ctg cct ggc acc cct ctc cag gag cgc atg ggc gag 1491
Phe Thr Glu Ala Leu Pro Gly Thr Pro Leu Gln Glu Arg Met Gly Glu
480 485 490
tgt ctg cag cgc acg ggc acc agt gtc gta ctc aca tcc atc aac aac 1539
Cys Leu Gln Arg Thr Gly Thr Ser Val Val Leu Thr Ser Ile Asn Asn
495 500 505
atg gcc gcc ttc ctc atg gct gcc ctc gtt ccc atc cct gcg ctg cga 1587
Met Ala Ala Phe Leu Met Ala Ala Leu Val Pro Ile Pro Ala Leu Arg
510 515 520 525
gcc ttc tcc cta cag gcg gcc ata gtg gtt ggc tgc acc ttt gta gcc 1635
Ala Phe Ser Leu Gln Ala Ala Ile Val Val Gly Cys Thr Phe Val Ala
530 535 540
gtg atg ctt gtc ttc cca gcc atc ctc agc ctg gac cta cgg cgg cgc 1683
Val Met Leu Val Phe Pro Ala Ile Leu Ser Leu Asp Leu Arg Arg Arg
545 550 555
cac tgc cag cgc ctt gat gtg ctc tgc tgc ttc tcc agt ccc tgc tct 1731
His Cys Gln Arg Leu Asp Val Leu Cys Cys Phe Ser Ser Pro Cys Ser
560 565 570
gct cag gtg att cag atc ctg ccc cag gag ctg ggg gac ggg aca gta 1779
Ala Gln Val Ile Gln Ile Leu Pro Gln Glu Leu Gly Asp Gly Thr Val
575 580 585
cca gtg ggc att gcc cac ctc act gcc aca gtt caa gcc ttt acc cac 1827
Pro Val Gly Ile Ala His Leu Thr Ala Thr Val Gln Ala Phe Thr His
590 595 600 605
tgt gaa gcc agc agc cag cat gtg gtc acc atc ctg cct ccc caa gcc 1875
Cys Glu Ala Ser Ser Gln His Val Val Thr Ile Leu Pro Pro Gln Ala
610 615 620
cac ctg gtg ccc cca cct tct gac cca ctg ggc tct gag ctc ttc agc 1923
His Leu Val Pro Pro Pro Ser Asp Pro Leu Gly Ser Glu Leu Phe Ser
625 630 635
cct gga ggg tcc aca cgg gac ctt cta ggc cag gag gag gag aca agg 1971
Pro Gly Gly Ser Thr Arg Asp Leu Leu Gly Gln Glu Glu Glu Thr Arg
640 645 650
cag aag gca gcc tgc aag tcc ctg ccc tgt gcc cgc tgg aat ctt gcc 2019
Gln Lys Ala Ala Cys Lys Ser Leu Pro Cys Ala Arg Trp Asn Leu Ala
655 660 665
cat ttc gcc cgc tat cag ttt gcc ccg ttg ctg ctc cag tca cat gct 2067
His Phe Ala Arg Tyr Gln Phe Ala Pro Leu Leu Leu Gln Ser His Ala
670 675 680 685
aag gcc atc gtg ctg gtg ctc ttt ggt gct ctt ctg ggc ctg agc ctc 2115
Lys Ala Ile Val Leu Val Leu Phe Gly Ala Leu Leu Gly Leu Ser Leu
690 695 700
tac gga gcc acc ttg gtg caa gac ggc ctg gcc ctg acg gat gtg gtg 2163
Tyr Gly Ala Thr Leu Val Gln Asp Gly Leu Ala Leu Thr Asp Val Val
705 710 715
cct cgg ggc acc aag gag cat gcc ttc ctg agc gcc cag ctc agg tac 2211
Pro Arg Gly Thr Lys Glu His Ala Phe Leu Ser Ala Gln Leu Arg Tyr
Untitled[1][1][1].ST25痣样基底细胞癌综合征致病基因及其编码蛋白
720 725 730
ttc tcc ctg tac gag gtg gcc ctg gtg acc cag ggt ggc ttt gac tac 2259
Phe Ser Leu Tyr Glu Val Ala Leu Val Thr Gln Gly Gly Phe Asp Tyr
735 740 745
gcc cac tcc caa cgc gcc ctc ttt gat ctg cac cag cgc ttc agt tcc 2307
Ala His Ser Gln Arg Ala Leu Phe Asp Leu His Gln Arg Phe Ser Ser
750 755 760 765
ctc aag gcg gtg ctg ccc cca ccg gcc acc cag gca ccc cgc acc tgg 2355
Leu Lys Ala Val Leu Pro Pro Pro Ala Thr Gln Ala Pro Arg Thr Trp
770 775 780
ctg cac tat tac cgc aac tgg cta cag gga atc cag gct gcc ttt gac 2403
Leu His Tyr Tyr Arg Asn Trp Leu Gln Gly Ile Gln Ala Ala Phe Asp
785 790 795
cag gac tgg gct tct ggg cgc atc acc cgc cac tcg tac cgc aat ggc 2451
Gln Asp Trp Ala Ser Gly Arg Ile Thr Arg His Ser Tyr Arg Asn Gly
800 805 810
tct gag gat ggg gcc ctg gcc tac aag ctg ctc atc cag act gga gac 2499
Ser Glu Asp Gly Ala Leu Ala Tyr Lys Leu Leu Ile Gln Thr Gly Asp
815 820 825
gcc cag gag cct ctg gat ttc agc cag ctg acc aca agg aag ctg gtg 2547
Ala Gln Glu Pro Leu Asp Phe Ser Gln Leu Thr Thr Arg Lys Leu Val
830 835 840 845
gac aga gag gga ctg att cca ccc gag ctc ttc tac atg ggg ctg acc 2595
Asp Arg Glu Gly Leu Ile Pro Pro Glu Leu Phe Tyr Met Gly Leu Thr
850 855 860
gtg tgg gtg agc agt gac ccc ctg ggt ctg gca gcc tca cag gcc aac 2643
Val Trp Val Ser Ser Asp Pro Leu Gly Leu Ala Ala Ser Gln Ala Asn
865 870 875
ttc tac ccc cca cct cct gaa tgg ctg cac gac aaa tac gac acc acg 2691
Phe Tyr Pro Pro Pro Pro Glu Trp Leu His Asp Lys Tyr Asp Thr Thr
880 885 890
ggg gag aac ctt cgc atc ccg cca gct cag ccc ttg gag ttt gcc cag 2739
Gly Glu Asn Leu Arg Ile Pro Pro Ala Gln Pro Leu Glu Phe Ala Gln
895 900 905
ttc ccc ttc ctg ctg cgt ggc ctc cag aag act gca gac ttt gtg gag 2787
Phe Pro Phe Leu Leu Arg Gly Leu Gln Lys Thr Ala Asp Phe Val Glu
910 915 920 925
gcc atc gag ggg gcc cgg gca gca tgc gca gag gcc ggc cag gct ggg 2835
Ala Ile Glu Gly Ala Arg Ala Ala Cys Ala Glu Ala Gly Gln Ala Gly
930 935 940
gtg cac gcc tac ccc agc ggc tcc ccc ttc ctc ttc tgg gaa cag tat 2883
Val His Ala Tyr Pro Ser Gly Ser Pro Phe Leu Phe Trp Glu Gln Tyr
945 950 955
ctg ggc ctg cgg cgc tgc ttc ctg ctg gcc gtc tgc atc ctg ctg gtg 2931
Leu Gly Leu Arg Arg Cys Phe Leu Leu Ala Val Cys Ile Leu Leu Val
960 965 970
tgc act ttc ctc gtc tgt gct ctg ctg ctc ctc aac ccc tgg acg gct 2979
Cys Thr Phe Leu Val Cys Ala Leu Leu Leu Leu Asn Pro Trp Thr Ala
975 980 985
ggc ctc ata gtg ctg gtc ctg gcg atg atg aca gtg gaa ctc ttt ggt 3027
Gly Leu Ile Val Leu Val Leu Ala Met Met Thr Val Glu Leu Phe Gly
990 995 1000 1005
atc atg ggt ttc ctg ggc atc aag ctg agt gcc atc ccc gtg gtg 3072
Ile Met Gly Phe Leu Gly Ile Lys Leu Ser Ala Ile Pro Val Val
1010 1015 1020
atc ctt gtg gcc tct gta ggc att ggc gtt gag ttc aca gtc cac 3117
Untitled[1][1][1].ST25痣样基底细胞癌综合征致病基因及其编码蛋白
Ile Leu Val Ala Ser Val Gly Ile Gly Val Glu Phe Thr Val His
1025 1030 1035
gtg gct ctg ggc ttc ctg acc acc cag ggc agc cgg aac ctg cgg 3162
Val Ala Leu Gly Phe Leu Thr Thr Gln Gly Ser Arg Asn Leu Arg
1040 1045 1050
gcc gcc cat gcc ctt gag cac aca ttt gcc ccc gtg acc gat ggg 3207
Ala Ala His Ala Leu Glu His Thr Phe Ala Pro Val Thr Asp Gly
1055 1060 1065
gcc atc tcc aca ttg ctg ggt ctg ctc atg ctt gct ggt tcc cac 3252
Ala Ile Ser Thr Leu Leu Gly Leu Leu Met Leu Ala Gly Ser His
1070 1075 1080
ttt gac ttc att gta agg tgatacagat gtacaaggaa agcccagaga 3300
Phe Asp Phe Ile Val Arg
1085
tcctgagtcc accagctcca cagggaggcg ggcttaggtg gggggcatcc tcctccctgc 3360
cccagagctt tgccagagtg actacctcca tgaccgtggc catccaccca ccccccctgc 3420
ctggtgccta catccatcca gcccctgatg agcccccttg gtcccctgct gccactagct 3480
ctggcaacct cagttccagg ggaccaggtc cagccactgg gtga 3524
<210>10
<211>1086
<212>PRT
<213>人
<400>10
Met Thr Arg Ser Pro Pro Leu Arg Glu Leu Pro Pro Ser Tyr Thr Pro
1 5 10 15
Pro Ala Arg Thr Ala Ala Pro Gln Ile Leu Ala Gly Ser Leu Lys Ala
20 25 30
Pro Leu Trp Leu Arg Ala Tyr Phe Gln Gly Leu Leu Phe Ser Leu Gly
35 40 45
Cys Gly Ile Gln Arg His Cys Gly Lys Val Leu Phe Leu Gly Leu Leu
50 55 60
Ala Phe Gly Ala Leu Ala Leu Gly Leu Arg Met Ala Ile Ile Glu Thr
65 70 75 80
Asn Leu Glu Gln Leu Trp Val Glu Val Gly Ser Arg Val Ser Gln Glu
85 90 95
Leu His Tyr Thr Lys Glu Lys Leu Gly Glu Glu Ala Ala Tyr Thr Ser
100 105 110
Gln Met Leu Ile Gln Thr Ala Arg Gln Glu Gly Glu Asn Ile Leu Thr
115 120 125
Pro Glu Ala Leu Gly Leu His Leu Gln Ala Ala Leu Thr Ala Ser Lys
130 135 140
Val Gln Val Ser Leu Tyr Gly Lys Ser Trp Asp Leu Asn Lys Ile Cys
145 150 155 160
Untitled[1][1][1].ST25痣样基底细胞癌综合征致病基因及其编码蛋白
Tyr Lys Ser Gly Val Pro Leu Ile Glu Asn Gly Met Ile Glu Arg Met
165 170 175
Ile Glu Lys Leu Phe Pro Cys Val Ile Leu Thr Pro Leu Asp Cys Phe
180 185 190
Trp Glu Gly Ala Lys Leu Gln Gly Gly Ser Ala Tyr Leu Pro Gly Arg
195 200 205
Pro Asp Ile Gln Trp Thr Asn Leu Asp Pro Glu Gln Leu Leu Glu Glu
210 215 220
Leu Gly Pro Phe Ala Ser Leu Glu Gly Phe Arg Glu Leu Leu Asp Lys
225 230 235 240
Ala Gln Val Gly Gln Ala Tyr Val Gly Arg Pro Cys Leu His Pro Asp
245 250 255
Asp Leu His Cys Pro Pro Ser Ala Pro Asn His His Ser Arg Gln Ala
260 265 270
Pro Asn Val Ala His Glu Leu Ser Gly Gly Cys His Gly Phe Ser His
275 280 285
Lys Phe Met His Trp Gln Glu Glu Leu Leu Leu Gly Gly Met Ala Arg
290 295 300
Asp Pro Gln Gly Glu Leu Leu Arg Ala Glu Ala Leu Gln Ser Thr Phe
305 310 315 320
Leu Leu Met Ser Pro Arg Gln Leu Tyr Glu His Phe Arg Gly Asp Tyr
325 330 335
Gln Thr His Asp Ile Gly Trp Ser Glu Glu Gln Ala Ser Thr Val Leu
340 345 350
Gln Ala Trp Gln Arg Arg Phe Val Gln Leu Ala Gln Glu Ala Leu Pro
355 360 365
Glu Asn Ala Ser Gln Gln Ile His Ala Phe Ser Ser Thr Thr Leu Asp
370 375 380
Asp Ile Leu His Ala Phe Ser Glu Val Ser Ala Ala Arg Val Val Gly
385 390 395 400
Gly Tyr Leu Leu Met Leu Ala Tyr Ala Cys Val Thr Met Leu Arg Trp
405 410 415
Asp Cys Ala Gln Ser Gln Gly Ser Val Gly Leu Ala Gly Val Leu Leu
420 425 430
Val Ala Leu Ala Val Ala Ser Gly Leu Gly Leu Cys Ala Leu Leu Gly
435 440 445
Ile Thr Phe Asn Ala Ala Thr Thr Gln Val Leu Pro Phe Leu Ala Leu
450 455 460
Untitled[1][1][1].ST25痣样基底细胞癌综合征致病基因及其编码蛋白
Gly Ile Gly Val Asp Asp Val Phe Leu Leu Ala His Ala Phe Thr Glu
465 470 475 480
Ala Leu Pro Gly Thr Pro Leu Gln Glu Arg Met Gly Glu Cys Leu Gln
485 490 495
Arg Thr Gly Thr Ser Val Val Leu Thr Ser Ile Asn Asn Met Ala Ala
500 505 510
Phe Leu Met Ala Ala Leu Val Pro Ile Pro Ala Leu Arg Ala Phe Ser
515 520 525
Leu Gln Ala Ala Ile Val Val Gly Cys Thr Phe Val Ala Val Met Leu
530 535 540
Val Phe Pro Ala Ile Leu Ser Leu Asp Leu Arg Arg Arg His Cys Gln
545 550 555 560
Arg Leu Asp Val Leu Cys Cys Phe Ser Ser Pro Cys Ser Ala Gln Val
565 570 575
Ile Gln Ile Leu Pro Gln Glu Leu Gly Asp Gly Thr Val Pro Val Gly
580 585 590
Ile Ala His Leu Thr Ala Thr Val Gln Ala Phe Thr His Cys Glu Ala
595 600 605
Ser Ser Gln His Val Val Thr Ile Leu Pro Pro Gln Ala His Leu Val
610 615 620
Pro Pro Pro Ser Asp Pro Leu Gly Ser Glu Leu Phe Ser Pro Gly Gly
625 630 635 640
Ser Thr Arg Asp Leu Leu Gly Gln Glu Glu Glu Thr Arg Gln Lys Ala
645 650 655
Ala Cys Lys Ser Leu Pro Cys Ala Arg Trp Asn Leu Ala His Phe Ala
660 665 670
Arg Tyr Gln Phe Ala Pro Leu Leu Leu Gln Ser His Ala Lys Ala Ile
675 680 685
Val Leu Val Leu Phe Gly Ala Leu Leu Gly Leu Ser Leu Tyr Gly Ala
690 695 700
Thr Leu Val Gln Asp Gly Leu Ala Leu Thr Asp Val Val Pro Arg Gly
705 710 715 720
Thr Lys Glu His Ala Phe Leu Ser Ala Gln Leu Arg Tyr Phe Ser Leu
725 730 735
Tyr Glu Val Ala Leu Val Thr Gln Gly Gly Phe Asp Tyr Ala His Ser
740 745 750
Gln Arg Ala Leu Phe Asp Leu His Gln Arg Phe Ser Ser Leu Lys Ala
755 760 765
Untitled[1][1][1].ST25痣样基底细胞癌综合征致病基因及其编码蛋白
Val Leu Pro Pro Pro Ala Thr Gln Ala Pro Arg Thr Trp Leu His Tyr
770 775 780
Tyr Arg Asn Trp Leu Gln Gly Ile Gln Ala Ala Phe Asp Gln Asp Trp
785 790 795 800
Ala Ser Gly Arg Ile Thr Arg His Ser Tyr Arg Asn Gly Ser Glu Asp
805 810 815
Gly Ala Leu Ala Tyr Lys Leu Leu Ile Gln Thr Gly Asp Ala Gln Glu
820 825 830
Pro Leu Asp Phe Ser Gln Leu Thr Thr Arg Lys Leu Val Asp Arg Glu
835 840 845
Gly Leu Ile Pro Pro Glu Leu Phe Tyr Met Gly Leu Thr Val Trp Val
850 855 860
Ser Ser Asp Pro Leu Gly Leu Ala Ala Ser Gln Ala Asn Phe Tyr Pro
865 870 875 880
Pro Pro Pro Glu Trp Leu His Asp Lys Tyr Asp Thr Thr Gly Glu Asn
885 890 895
Leu Arg Ile Pro Pro Ala Gln Pro Leu Glu Phe Ala Gln Phe Pro Phe
900 905 910
Leu Leu Arg Gly Leu Gln Lys Thr Ala Asp Phe Val Glu Ala Ile Glu
915 920 925
Gly Ala Arg Ala Ala Cys Ala Glu Ala Gly Gln Ala Gly Val His Ala
930 935 940
Tyr Pro Ser Gly Ser Pro Phe Leu Phe Trp Glu Gln Tyr Leu Gly Leu
945 950 955 960
Arg Arg Cys Phe Leu Leu Ala Val Cys Ile Leu Leu Val Cys Thr Phe
965 970 975
Leu Val Cys Ala Leu Leu Leu Leu Asn Pro Trp Thr Ala Gly Leu Ile
980 985 990
Val Leu Val Leu Ala Met Met Thr Val Glu Leu Phe Gly Ile Met Gly
995 1000 1005
Phe Leu Gly Ile Lys Leu Ser Ala Ile Pro Val Val Ile Leu Val
1010 1015 1020
Ala Ser Val Gly Ile Gly Val Glu Phe Thr Val His Val Ala Leu
1025 1030 1035
Gly Phe Leu Thr Thr Gln Gly Ser Arg Asn Leu Arg Ala Ala His
1040 1045 1050
Ala Leu Glu His Thr Phe Ala Pro Val Thr Asp Gly Ala Ile Ser
Untitled[1][1][1].ST25痣样基底细胞癌综合征致病基因及其编码蛋白
1055 1060 1065
Thr Leu Leu Gly Leu Leu Met Leu Ala Gly Ser His Phe Asp Phe
1070 1075 1080
Ile Val Arg
1085
<210>11
<211>3524
<212>DNA
<213>人
<220>
<221>CDS
<222>(13)..(3270)
<223>
<400>11
atccccgcca gc atg act cga tcg ccg ccc ctc aga gag ctg ccc ccg agt 51
Met Thr Arg Ser Pro Pro Leu Arg Glu Leu Pro Pro Ser
1 5 10
tac aca ccc cca gct cga acc gca gca ccc cag atc cta gct ggg agc 99
Tyr Thr Pro Pro Ala Arg Thr Ala Ala Pro Gln Ile Leu Ala Gly Ser
15 20 25
ctg aag gct cca ctc tgg ctt cgt gct tac ttc cag ggc ctg ctc ttc 147
Leu Lys Ala Pro Leu Trp Leu Arg Ala Tyr Phe Gln Gly Leu Leu Phe
30 35 40 45
tct ctg gga tgc ggg atc cag aga cat tgt ggc aaa gtg ctc ttt ctg 195
Ser Leu Gly Cys Gly Ile Gln Arg His Cys Gly Lys Val Leu Phe Leu
50 55 60
gga ctg ttg gcc ttt ggg gcc ctg gca tta ggt ctc cgc atg gcc att 243
Gly Leu Leu Ala Phe Gly Ala Leu Ala Leu Gly Leu Arg Met Ala Ile
65 70 75
att gag aca aac ttg gaa cag ctc tgg gta gaa gtg ggc agc cgg gtg 291
Ile Glu Thr Asn Leu Glu Gln Leu Trp Val Glu Val Gly Ser Arg Val
80 85 90
agc cag gag ctg cat tac acc aag gag aag ctg ggg gag gag gct gca 339
Ser Gln Glu Leu His Tyr Thr Lys Glu Lys Leu Gly Glu Glu Ala Ala
95 100 105
tac acc tct cag atg ctg ata cag acc gca cgc cag gag gga gag aac 387
Tyr Thr Ser Gln Met Leu Ile Gln Thr Ala Arg Gln Glu Gly Glu Asn
110 115 120 125
atc ctc aca ccc gaa gca ctt ggc ctc cac ctc cag gca gcc ctc act 435
Ile Leu Thr Pro Glu Ala Leu Gly Leu His Leu Gln Ala Ala Leu Thr
130 135 140
gcc agt aaa gtc caa gta tca ctc tat ggg aag tcc tgg gat ttg aac 483
Ala Ser Lys Val Gln Val Ser Leu Tyr Gly Lys Ser Trp Asp Leu Asn
145 150 155
aaa atc tgc tac aag tca gga gtt ccc ctt att gaa aat gga atg att 531
Lys Ile Cys Tyr Lys Ser Gly Val Pro Leu Ile Glu Asn Gly Met Ile
160 165 170
gag cgg atg att gag aag ctg ttt ccg tgc gtg atc ctc acc ccc ctc 579
Glu Arg Met Ile Glu Lys Leu Phe Pro Cys Val Ile Leu Thr Pro Leu
175 180 185
gac tgc ttc tgg gag gga gcc aaa ctc caa ggg ggc tcc gcc tac ctg 627
Asp Cys Phe Trp Glu Gly Ala Lys Leu Gln Gly Gly Ser Ala Tyr Leu
190 195 200 205
ccc ggc cgc ccg gat atc cag tgg acc aac ctg gat cca gag cag ctg 675
Untitled[1][1][1].ST25痣样基底细胞癌综合征致病基因及其编码蛋白
Pro Gly Arg Pro Asp Ile Gln Trp Thr Asn Leu Asp Pro Glu Gln Leu
210 215 220
ctg gag gag ctg ggt ccc ttt gcc tcc ctt gag ggc ttc cgg gag ctg 723
Leu Glu Glu Leu Gly Pro Phe Ala Ser Leu Glu Gly Phe Arg Glu Leu
225 230 235
cta gac aag gca cag gtg ggc cag gcc tac gtg ggg cgg ccc tgt ctg 771
Leu Asp Lys Ala Gln Val Gly Gln Ala Tyr Val Gly Arg Pro Cys Leu
240 245 250
cac cct gat gac ctc cac tgc cca cct agt gcc ccc aac cat cac agc 819
His Pro Asp Asp Leu His Cys Pro Pro Ser Ala Pro Asn His His Ser
255 260 265
agg cag gct ccc aat gtg gct cac gag ctg agt ggg ggc tgc cat ggc 867
Arg Gln Ala Pro Asn Val Ala His Glu Leu Ser Gly Gly Cys His Gly
270 275 280 285
ttc tcc cac aaa ttc atg cac tgg cag gag gaa ttg ctg ctg gga ggc 915
Phe Ser His Lys Phe Met His Trp Gln Glu Glu Leu Leu Leu Gly Gly
290 295 300
atg gcc aga gac ccc caa gga gag ctg ctg agg gca gag gcc ctg cag 963
Met Ala Arg Asp Pro Gln Gly Glu Leu Leu Arg Ala Glu Ala Leu Gln
305 310 315
agc acc ttc ttg ctg atg agt ccc cgc cag ctg tac gag cat ttc cgg 1011
Ser Thr Phe Leu Leu Met Ser Pro Arg Gln Leu Tyr Glu His Phe Arg
320 325 330
ggt gac tat cag aca cat gac att ggc tgg agt gag gag cag gcc agc 1059
Gly Asp Tyr Gln Thr His Asp Ile Gly Trp Ser Glu Glu Gln Ala Ser
335 340 345
aca gtg cta caa gcc tgg cag cgg cgc ttt gtg cag ctg gcc cag gag 1107
Thr Val Leu Gln Ala Trp Gln Arg Arg Phe Val Gln Leu Ala Gln Glu
350 355 360 365
gcc ctg cct gag aac gct tcc cag cag atc cat gcc ttc tcc tcc acc 1155
Ala Leu Pro Glu Asn Ala Ser Gln Gln Ile His Ala Phe Ser Ser Thr
370 375 380
acc ctg gat gac atc ctg cat gcg ttc tct gaa gtc agt gct gcc cgt 1203
Thr Leu Asp Asp Ile Leu His Ala Phe Ser Glu Val Ser Ala Ala Arg
385 390 395
gtg gtg gga ggc tat ctg ctc atg ctg gcc tat gcc tgt gtg acc atg 1251
Val Val Gly Gly Tyr Leu Leu Met Leu Ala Tyr Ala Cys Val Thr Met
400 405 410
ctg cgg tgg gac tgc gcc cag tcc cag ggt tcc gtg ggc ctt gcc ggg 1299
Leu Arg Trp Asp Cys Ala Gln Ser Gln Gly Ser Val Gly Leu Ala Gly
415 420 425
gta ctg ctg gtg gcc ctg gcg gtg gcc tca ggc ctt ggg ctc tgt gcc 1347
Val Leu Leu Val Ala Leu Ala Val Ala Ser Gly Leu Gly Leu Cys Ala
430 435 440 445
ctg ctc ggc atc acc ttc aat gct gcc act acc cag gtg ctg ccc ttc 1395
Leu Leu Gly Ile Thr Phe Asn Ala Ala Thr Thr Gln Val Leu Pro Phe
450 455 460
ttg gct ctg gga atc ggc gtg gat gac gta ttc ctg ctg gcg cat gcc 1443
Leu Ala Leu Gly Ile Gly Val Asp Asp Val Phe Leu Leu Ala His Ala
465 470 475
ttc aca gag gct ctg cct ggc acc cct ctc cag gag cgc atg ggc gag 1491
Phe Thr Glu Ala Leu Pro Gly Thr Pro Leu Gln Glu Arg Met Gly Glu
480 485 490
tgt ctg cag cgc acg ggc acc agt gtc gta ctc aca tcc atc aac aac 1539
Cys Leu Gln Arg Thr Gly Thr Ser Val Val Leu Thr Ser Ile Asn Asn
495 500 505
Untitled[1][1][1].ST25痣样基底细胞癌综合征致病基因及其编码蛋白
atg gcc gcc ttc ctc atg gct gcc ctc gtt ccc atc cct gcg ctg cga 1587
Met Ala Ala Phe Leu Met Ala Ala Leu Val Pro Ile Pro Ala Leu Arg
510 515 520 525
gcc ttc tcc cta cag gcg gcc ata gtg gtt ggc tgc acc ttt gta gcc 1635
Ala Phe Ser Leu Gln Ala Ala Ile Val Val Gly Cys Thr Phe Val Ala
530 535 540
gtg atg ctt gtc ttc cca gcc atc ctc agc ctg gac cta cgg cgg cgc 1683
Val Met Leu Val Phe Pro Ala Ile Leu Ser Leu Asp Leu Arg Arg Arg
545 550 555
cac tgc cag cgc ctt gat gtg ctc tgc tgc ttc tcc agt ccc tgc tct 1731
His Cys Gln Arg Leu Asp Val Leu Cys Cys Phe Ser Ser Pro Cys Ser
560 565 570
gct cag gtg att cag atc ctg ccc cag gag ctg ggg gac ggg aca gta 1779
Ala Gln Val Ile Gln Ile Leu Pro Gln Glu Leu Gly Asp Gly Thr Val
575 580 585
cca gtg ggc att gcc cac ctc act gcc aca gtt caa gcc ttt acc cac 1827
Pro Val Gly Ile Ala His Leu Thr Ala Thr Val Gln Ala Phe Thr His
590 595 600 605
tgt gaa gcc agc agc cag cat gtg gtc acc atc ctg cct ccc caa gcc 1875
Cys Glu Ala Ser Ser Gln His Val Val Thr Ile Leu Pro Pro Gln Ala
610 615 620
cac ctg gtg ccc cca cct tct gac cca ctg ggc tct gag ctc ttc agc 1923
His Leu Val Pro Pro Pro Ser Asp Pro Leu Gly Ser Glu Leu Phe Ser
625 630 635
cct gga ggg tcc aca cgg gac ctt cta ggc cag gag gag gag aca agg 1971
Pro Gly Gly Ser Thr Arg Asp Leu Leu Gly Gln Glu Glu Glu Thr Arg
640 645 650
cag aag gca gcc tgc aag tcc ctg ccc tgt gcc cgc tgg aat ctt gcc 2019
Gln Lys Ala Ala Cys Lys Ser Leu Pro Cys Ala Arg Trp Asn Leu Ala
655 660 665
cat ttc gcc cgc tat cag ttt gcc ccg ttg ctg ctc cag tca cat gct 2067
His Phe Ala Arg Tyr Gln Phe Ala Pro Leu Leu Leu Gln Ser His Ala
670 675 680 685
aag gcc atc gtg ctg gtg ctc ttt ggt gct ctt ctg ggc ctg agc ctc 2115
Lys Ala Ile Val Leu Val Leu Phe Gly Ala Leu Leu Gly Leu Ser Leu
690 695 700
tac gga gcc acc ttg gtg caa gac ggc ctg gcc ctg acg gat gtg gtg 2163
Tyr Gly Ala Thr Leu Val Gln Asp Gly Leu Ala Leu Thr Asp Val Val
705 710 715
cct cag ggc acc aag gag cat gcc ttc ctg agc gcc cag ctc agg tac 2211
Pro Gln Gly Thr Lys Glu His Ala Phe Leu Ser Ala Gln Leu Arg Tyr
720 725 730
ttc tcc ctg tac gag gtg gcc ctg gtg acc cag ggt ggc ttt gac tac 2259
Phe Ser Leu Tyr Glu Val Ala Leu Val Thr Gln Gly Gly Phe Asp Tyr
735 740 745
gcc cac tcc caa cgc gcc ctc ttt gat ctg cac cag cgc ttc agt tcc 2307
Ala His Ser Gln Arg Ala Leu Phe Asp Leu His Gln Arg Phe Ser Ser
750 755 760 765
ctc aag gcg gtg ctg ccc cca ccg gcc acc cag gca ccc cgc acc tgg 2355
Leu Lys Ala Val Leu Pro Pro Pro Ala Thr Gln Ala Pro Arg Thr Trp
770 775 780
ctg cac tat tac cgc aac tgg cta cag gga atc cag gct gcc ttt gac 2403
Leu His Tyr Tyr Arg Asn Trp Leu Gln Gly Ile Gln Ala Ala Phe Asp
785 790 795
cag gac tgg gct tct ggg cgc atc acc cgc cac tcg tac cgc aat ggc 2451
Gln Asp Trp Ala Ser Gly Arg Ile Thr Arg His Ser Tyr Arg Asn Gly
800 805 810
Untitled[1][1][1].ST25痣样基底细胞癌综合征致病基因及其编码蛋白
tct gag gat ggg gcc ctg gcc tac aag ctg ctc atc cag act gga gac 2499
Ser Glu Asp Gly Ala Leu Ala Tyr Lys Leu Leu Ile Gln Thr Gly Asp
815 820 825
gcc cag gag cct ctg gat ttc agc cag ctg acc aca agg aag ctg gtg 2547
Ala Gln Glu Pro Leu Asp Phe Ser Gln Leu Thr Thr Arg Lys Leu Val
830 835 840 845
gac aga gag gga ctg att cca ccc gag ctc ttc tac atg ggg ctg acc 2595
Asp Arg Glu Gly Leu Ile Pro Pro Glu Leu Phe Tyr Met Gly Leu Thr
850 855 860
gtg tgg gtg agc agt gac ccc ctg ggt ctg gca gcc tca cag gcc aac 2643
Val Trp Val Ser Ser Asp Pro Leu Gly Leu Ala Ala Ser Gln Ala Asn
865 870 875
ttc tac ccc cca cct cct gaa tgg ctg cac gac aaa tac gac acc acg 2691
Phe Tyr Pro Pro Pro Pro Glu Trp Leu His Asp Lys Tyr Asp Thr Thr
880 885 890
ggg gag aac ctt cgc atc ccg cca gct cag ccc ttg gag ttt gcc cag 2739
Gly Glu Asn Leu Arg Ile Pro Pro Ala Gln Pro Leu Glu Phe Ala Gln
895 900 905
ttc ccc ttc ctg ctg cgt ggc ctc cag aag act gca gac ttt gtg gag 2787
Phe Pro Phe Leu Leu Arg Gly Leu Gln Lys Thr Ala Asp Phe Val Glu
910 915 920 925
gcc atc gag ggg gcc cgg gca gca tgc gca gag gcc ggc cag gct ggg 2835
Ala Ile Glu Gly Ala Arg Ala Ala Cys Ala Glu Ala Gly Gln Ala Gly
930 935 940
gtg cac gcc tac ccc agc ggc tcc ccc ttc ctc ttc tgg gaa cag tat 2883
Val His Ala Tyr Pro Ser Gly Ser Pro Phe Leu Phe Trp Glu Gln Tyr
945 950 955
ctg ggc ctg cgg cgc tgc ttc ctg ctg gcc gtc tgc atc ctg ctg gtg 2931
Leu Gly Leu Arg Arg Cys Phe Leu Leu Ala Val Cys Ile Leu Leu Val
960 965 970
tgc act ttc ctc gtc tgt gct ctg ctg ctc ctc aac ccc tgg acg gct 2979
Cys Thr Phe Leu Val Cys Ala Leu Leu Leu Leu Asn Pro Trp Thr Ala
975 980 985
ggc ctc ata gtg ctg gtc ctg gcg atg atg aca gtg gaa ctc ttt ggt 3027
Gly Leu Ile Val Leu Val Leu Ala Met Met Thr Val Glu Leu Phe Gly
990 995 1000 1005
atc atg ggt ttc ctg ggc atc aag ctg agt gcc atc ccc gtg gtg 3072
Ile Met Gly Phe Leu Gly Ile Lys Leu Ser Ala Ile Pro Val Val
1010 1015 1020
atc ctt gtg gcc tct gta ggc att ggc gtt gag ttc aca gtc cac 3117
Ile Leu Val Ala Ser Val Gly Ile Gly Val Glu Phe Thr Val His
1025 1030 1035
gtg gct ctg ggc ttc ctg acc acc cag ggc agc cgg aac ctg cgg 3162
Val Ala Leu Gly Phe Leu Thr Thr Gln Gly Ser Arg Asn Leu Arg
1040 1045 1050
gcc gcc cat gcc ctt gag cac aca ttt gcc ccc gtg acc gat ggg 3207
Ala Ala His Ala Leu Glu His Thr Phe Ala Pro Val Thr Asp Gly
1055 1060 1065
gcc atc tcc aca ttg ctg ggt ctg ctc atg ctt gct ggt tcc cac 3252
Ala Ile Ser Thr Leu Leu Gly Leu Leu Met Leu Ala Gly Ser His
1070 1075 1080
ttt gac ttc att gta agg tgatacagat gtacaaggaa agcccagaga 3300
Phe Asp Phe Ile Val Arg
1085
tcctgagtcc accagctcca cagggaggcg ggcttaggtg gggggcatcc tcctccctgc 3360
Untitled[1][1][1].ST25痣样基底细胞癌综合征致病基因及其编码蛋白
cccagagctt tgccagagtg actacctcca tgaccgtggc catccaccca ccccccctgc 3420
ctggtgccta catccatcca gcccctgatg agcccccttg gtcccctgct gccactagct 3480
ctggcaacct cagttccagg ggaccaggtc cagccactgg gtga 3524
<210>12
<211>1086
<212>PRT
<213>人
<400>12
Met Thr Arg Ser Pro Pro Leu Arg Glu Leu Pro Pro Ser Tyr Thr Pro
1 5 10 15
Pro Ala Arg Thr Ala Ala Pro Gln Ile Leu Ala Gly Ser Leu Lys Ala
20 25 30
Pro Leu Trp Leu Arg Ala Tyr Phe Gln Gly Leu Leu Phe Ser Leu Gly
35 40 45
Cys Gly Ile Gln Arg His Cys Gly Lys Val Leu Phe Leu Gly Leu Leu
50 55 60
Ala Phe Gly Ala Leu Ala Leu Gly Leu Arg Met Ala Ile Ile Glu Thr
65 70 75 80
Asn Leu Glu Gln Leu Trp Val Glu Val Gly Ser Arg Val Ser Gln Glu
85 90 95
Leu His Tyr Thr Lys Glu Lys Leu Gly Glu Glu Ala Ala Tyr Thr Ser
100 105 110
Gln Met Leu Ile Gln Thr Ala Arg Gln Glu Gly Glu Asn Ile Leu Thr
115 120 125
Pro Glu Ala Leu Gly Leu His Leu Gln Ala Ala Leu Thr Ala Ser Lys
130 135 140
Val Gln Val Ser Leu Tyr Gly Lys Ser Trp Asp Leu Asn Lys Ile Cys
145 150 155 160
Tyr Lys Ser Gly Val Pro Leu Ile Glu Asn Gly Met Ile Glu Arg Met
165 170 175
Ile Glu Lys Leu Phe Pro Cys Val Ile Leu Thr Pro Leu Asp Cys Phe
180 185 190
Trp Glu Gly Ala Lys Leu Gln Gly Gly Ser Ala Tyr Leu Pro Gly Arg
195 200 205
Pro Asp Ile Gln Trp Thr Asn Leu Asp Pro Glu Gln Leu Leu Glu Glu
210 215 220
Leu Gly Pro Phe Ala Ser Leu Glu Gly Phe Arg Glu Leu Leu Asp Lys
225 230 235 240
Ala Gln Val Gly Gln Ala Tyr Val Gly Arg Pro Cys Leu His Pro Asp
Untitled[1][1][1].ST25痣样基底细胞癌综合征致病基因及其编码蛋白
245 250 255
Asp Leu His Cys Pro Pro Ser Ala Pro Asn His His Ser Arg Gln Ala
260 265 270
Pro Asn Val Ala His Glu Leu Ser Gly Gly Cys His Gly Phe Ser His
275 280 285
Lys Phe Met His Trp Gln Glu Glu Leu Leu Leu Gly Gly Met Ala Arg
290 295 300
Asp Pro Gln Gly Glu Leu Leu Arg Ala Glu Ala Leu Gln Ser Thr Phe
305 310 315 320
Leu Leu Met Ser Pro Arg Gln Leu Tyr Glu His Phe Arg Gly Asp Tyr
325 330 335
Gln Thr His Asp Ile Gly Trp Ser Glu Glu Gln Ala Ser Thr Val Leu
340 345 350
Gln Ala Trp Gln Arg Arg Phe Val Gln Leu Ala Gln Glu Ala Leu Pro
355 360 365
Glu Asn Ala Ser Gln Gln Ile His Ala Phe Ser Ser Thr Thr Leu Asp
370 375 380
Asp Ile Leu His Ala Phe Ser Glu Val Ser Ala Ala Arg Val Val Gly
385 390 395 400
Gly Tyr Leu Leu Met Leu Ala Tyr Ala Cys Val Thr Met Leu Arg Trp
405 410 415
Asp Cys Ala Gln Ser Gln Gly Ser Val Gly Leu Ala Gly Val Leu Leu
420 425 430
Val Ala Leu Ala Val Ala Ser Gly Leu Gly Leu Cys Ala Leu Leu Gly
435 440 445
Ile Thr Phe Asn Ala Ala Thr Thr Gln Val Leu Pro Phe Leu Ala Leu
450 455 460
Gly Ile Gly Val Asp Asp Val Phe Leu Leu Ala His Ala Phe Thr Glu
465 470 475 480
Ala Leu Pro Gly Thr Pro Leu Gln Glu Arg Met Gly Glu Cys Leu Gln
485 490 495
Arg Thr Gly Thr Ser Val Val Leu Thr Ser Ile Asn Asn Met Ala Ala
500 505 510
Phe Leu Met Ala Ala Leu Val Pro Ile Pro Ala Leu Arg Ala Phe Ser
515 520 525
Leu Gln Ala Ala Ile Val Val Gly Cys Thr Phe Val Ala Val Met Leu
530 535 540
Untitled[1][1][1].ST25痣样基底细胞癌综合征致病基因及其编码蛋白
Val Phe Pro Ala Ile Leu Ser Leu Asp Leu Arg Arg Arg His Cys Gln
545 550 555 560
Arg Leu Asp Val Leu Cys Cys Phe Ser Ser Pro Cys Ser Ala Gln Val
565 570 575
Ile Gln Ile Leu Pro Gln Glu Leu Gly Asp Gly Thr Val Pro Val Gly
580 585 590
Ile Ala His Leu Thr Ala Thr Val Gln Ala Phe Thr His Cys Glu Ala
595 600 605
Ser Ser Gln His Val Val Thr Ile Leu Pro Pro Gln Ala His Leu Val
610 615 620
Pro Pro Pro Ser Asp Pro Leu Gly Ser Glu Leu Phe Ser Pro Gly Gly
625 630 635 640
Ser Thr Arg Asp Leu Leu Gly Gln Glu Glu Glu Thr Arg Gln Lys Ala
645 650 655
Ala Cys Lys Ser Leu Pro Cys Ala Arg Trp Asn Leu Ala His Phe Ala
660 665 670
Arg Tyr Gln Phe Ala Pro Leu Leu Leu Gln Ser His Ala Lys Ala Ile
675 680 685
Val Leu Val Leu Phe Gly Ala Leu Leu Gly Leu Ser Leu Tyr Gly Ala
690 695 700
Thr Leu Val Gln Asp Gly Leu Ala Leu Thr Asp Val Val Pro Gln Gly
705 710 715 720
Thr Lys Glu His Ala Phe Leu Ser Ala Gln Leu Arg Tyr Phe Ser Leu
725 730 735
Tyr Glu Val Ala Leu Val Thr Gln Gly Gly Phe Asp Tyr Ala His Ser
740 745 750
Gln Arg Ala Leu Phe Asp Leu His Gln Arg Phe Ser Ser Leu Lys Ala
755 760 765
Val Leu Pro Pro Pro Ala Thr Gln Ala Pro Arg Thr Trp Leu His Tyr
770 775 780
Tyr Arg Asn Trp Leu Gln Gly Ile Gln Ala Ala Phe Asp Gln Asp Trp
785 790 795 800
Ala Ser Gly Arg Ile Thr Arg His Ser Tyr Arg Asn Gly Ser Glu Asp
805 810 815
Gly Ala Leu Ala Tyr Lys Leu Leu Ile Gln Thr Gly Asp Ala Gln Glu
820 825 830
Pro Leu Asp Phe Ser Gln Leu Thr Thr Arg Lys Leu Val Asp Arg Glu
835 840 845
Untitled[1][1][1].ST25痣样基底细胞癌综合征致病基因及其编码蛋白
Gly Leu Ile Pro Pro Glu Leu Phe Tyr Met Gly Leu Thr Val Trp Val
850 855 860
Ser Ser Asp Pro Leu Gly Leu Ala Ala Ser Gln Ala Asn Phe Tyr Pro
865 870 875 880
Pro Pro Pro Glu Trp Leu His Asp Lys Tyr Asp Thr Thr Gly Glu Asn
885 890 895
Leu Arg Ile Pro Pro Ala Gln Pro Leu Glu Phe Ala Gln Phe Pro Phe
900 905 910
Leu Leu Arg Gly Leu Gln Lys Thr Ala Asp Phe Val Glu Ala Ile Glu
915 920 925
Gly Ala Arg Ala Ala Cys Ala Glu Ala Gly Gln Ala Gly Val His Ala
930 935 940
Tyr Pro Ser Gly Ser Pro Phe Leu Phe Trp Glu Gln Tyr Leu Gly Leu
945 950 955 960
Arg Arg Cys Phe Leu Leu Ala Val Cys Ile Leu Leu Val Cys Thr Phe
965 970 975
Leu Val Cys Ala Leu Leu Leu Leu Asn Pro Trp Thr Ala Gly Leu Ile
980 985 990
Val Leu Val Leu Ala Met Met Thr Val Glu Leu Phe Gly Ile Met Gly
995 1000 1005
Phe Leu Gly Ile Lys Leu Ser Ala Ile Pro Val Val Ile Leu Val
1010 1015 1020
Ala Ser Val Gly Ile Gly Val Glu Phe Thr Val His Val Ala Leu
1025 1030 1035
Gly Phe Leu Thr Thr Gln Gly Ser Arg Asn Leu Arg Ala Ala His
1040 1045 1050
Ala Leu Glu His Thr Phe Ala Pro Val Thr Asp Gly Ala Ile Ser
1055 1060 1065
Thr Leu Leu Gly Leu Leu Met Leu Ala Gly Ser His Phe Asp Phe
1070 1075 1080
Ile Val Arg
1085
<210>13
<211>3768
<212>DNA
<213>人
<220>
<221>CDS
<222>(13)..(3579)
<223>
Untitled[1][1][1].ST25痣样基底细胞癌综合征致病基因及其编码蛋白
<400>13
atccccgcca ge atg act cga tcg ccg ccc ctc aga gag ctg ccc ccg agt 51
Met Thr Arg Ser Pro Pro Leu Arg Glu Leu Pro Pro Ser
1 5 10
tac aca ccc cca gct cga acc gca gca ccc cag atc cta gct ggg agc 99
Tyr Thr Pro Pro Ala Arg Thr Ala Ala Pro Gln Ile Leu Ala Gly Ser
15 20 25
ctg aag gct cca ctc tgg ctt cgt gct tac ttc cag ggc ctg ctc ttc 147
Leu Lys Ala Pro Leu Trp Leu Arg Ala Tyr Phe Gln Gly Leu Leu Phe
30 35 40 45
tct ctg gga tgc ggg atc cag aga cat tgt ggc aaa gtg ctc ttt ctg 195
Ser Leu Gly Cys Gly Ile Gln Arg His Cys Gly Lys Val Leu Phe Leu
50 55 60
gga ctg ttg gcc ttt ggg gcc ctg gca tta ggt ctc cgc atg gcc att 243
Gly Leu Leu Ala Phe Gly Ala Leu Ala Leu Gly Leu Arg Met Ala Ile
65 70 75
att gag aca aac ttg gaa cag ctc tgg gta gaa gtg ggc agc cgg gtg 291
Ile Glu Thr Asn Leu Glu Gln Leu Trp Val Glu Val Gly Ser Arg Val
80 85 90
agc cag gag ctg cat tac acc aag gag aag ctg ggg gag gag gct gca 339
Ser Gln Glu Leu His Tyr Thr Lys Glu Lys Leu Gly Glu Glu Ala Ala
95 100 105
tac acc tct cag atg ctg ata cag acc gca cgc cag gag gga gag aac 387
Tyr Thr Ser Gln Met Leu Ile Gln Thr Ala Arg Gln Glu Gly Glu Asn
110 115 120 125
atc ctc aca ccc gaa gca ctt ggc ctc cac ctc cag gca gcc ctc act 435
Ile Leu Thr Pro Glu Ala Leu Gly Leu His Leu Gln Ala Ala Leu Thr
130 135 140
gcc agt aaa gtc caa gta tca ctc tat ggg aag tcc tgg gat ttg aac 483
Ala Ser Lys Val Gln Val Ser Leu Tyr Gly Lys Ser Trp Asp Leu Asn
145 150 155
aaa atc tgc tac aag tca gga gtt ccc ctt att gaa aat gga atg att 531
Lys Ile Cys Tyr Lys Ser Gly Val Pro Leu Ile Glu Asn Gly Met Ile
160 165 170
gag cgg atg att gag aag ctg ttt ccg tgc gtg atc ctc acc ccc ctc 579
Glu Arg Met Ile Glu Lys Leu Phe Pro Cys Val Ile Leu Thr Pro Leu
175 180 185
gac tgc ttc tgg gag gga gcc aaa ctc caa ggg ggc tcc gcc tac ctg 627
Asp Cys Phe Trp Glu Gly Ala Lys Leu Gln Gly Gly Ser Ala Tyr Leu
190 195 200 205
ccc ggc cgc ccg gat atc cag tgg acc aac ctg gat cca gag cag ctg 675
Pro Gly Arg Pro Asp Ile Gln Trp Thr Asn Leu Asp Pro Glu Gln Leu
210 215 220
ctg gag gag ctg ggt ccc ttt gcc tcc ctt gag ggc ttc cgg gag ctg 723
Leu Glu Glu Leu Gly Pro Phe Ala Ser Leu Glu Gly Phe Arg Glu Leu
225 230 235
cta gac aag gca cag gtg ggc cag gcc tac gtg ggg cgg ccc tgt ctg 771
Leu Asp Lys Ala Gln Val Gly Gln Ala Tyr Val Gly Arg Pro Cys Leu
240 245 250
cac cct gat gac ctc cac tgc cca cct agt gcc ccc aac cat cac agc 819
His Pro Asp Asp Leu His Cys Pro Pro Ser Ala Pro Asn His His Ser
255 260 265
agg cag gct ccc aat gtg gct cac gag ctg agt ggg ggc tgc cat ggc 867
Arg Gln Ala Pro Asn Val Ala His Glu Leu Ser Gly Gly Cys His Gly
270 275 280 285
ttc tcc cac aaa ttc atg cac tgg cag gag gaa ttg ctg ctg gga ggc 915
Phe Ser His Lys Phe Met His Trp Gln Glu Glu Leu Leu Leu Gly Gly
Untitled[1][1][1].ST25痣样基底细胞癌综合征致病基因及其编码蛋白
290 295 300
atg gcc aga gac ccc caa gga gag ctg ctg agg gca gag gcc ctg cag 963
Met Ala Arg Asp Pro Gln Gly Glu Leu Leu Arg Ala Glu Ala Leu Gln
305 310 315
agc acc ttc ttg ctg atg agt ccc cgc cag ctg tac gag cat ttc cgg 1011
Ser Thr Phe Leu Leu Met Ser Pro Arg Gln Leu Tyr Glu His Phe Arg
320 325 330
ggt gac tat cag aca cat gac att ggc tgg agt gag gag cag gcc agc 1059
Gly Asp Tyr Gln Thr His Asp Ile Gly Trp Ser Glu Glu Gln Ala Ser
335 340 345
aca gtg cta caa gcc tgg cag cgg cgc ttt gtg cag ctg gcc cag gag 1107
Thr Val Leu Gln Ala Trp Gln Arg Arg Phe Val Gln Leu Ala Gln Glu
350 355 360 365
gcc ctg cct gag aac gct tcc cag cag atc cat gcc ttc tcc tcc acc 1155
Ala Leu Pro Glu Asn Ala Ser Gln Gln Ile His Ala Phe Ser Ser Thr
370 375 380
acc ctg gat gac atc ctg cat gcg ttc tct gaa gtc agt gct gcc cgt 1203
Thr Leu Asp Asp Ile Leu His Ala Phe Ser Glu Val Ser Ala Ala Arg
385 390 395
gtg gtg gga ggc tat ctg ctc atg ctg gcc tat gcc tgt gtg acc atg 1251
Val Val Gly Gly Tyr Leu Leu Met Leu Ala Tyr Ala Cys Val Thr Met
400 405 410
ctg cgg tgg gac tgc gcc cag tcc cag ggt tcc gtg ggc ctt gcc ggg 1299
Leu Arg Trp Asp Cys Ala Gln Ser Gln Gly Ser Val Gly Leu Ala Gly
415 420 425
gta ctg ctg gtg gcc ctg gcg gtg gcc tca ggc ctt ggg ctc tgt gcc 1347
Val Leu Leu Val Ala Leu Ala Val Ala Ser Gly Leu Gly Leu Cys Ala
430 435 440 445
ctg ctc ggc atc acc ttc aat gct gcc act acc cag gtg ctg ccc ttc 1395
Leu Leu Gly Ile Thr Phe Asn Ala Ala Thr Thr Gln Val Leu Pro Phe
450 455 460
ttg gct ctg gga atc ggc gtg gat gac gta ttc ctg ctg gcg cat gcc 1443
Leu Ala Leu Gly Ile Gly Val Asp Asp Val Phe Leu Leu Ala His Ala
465 470 475
ttc aca gag gct ctg cct ggc acc cct ctc cag gag cgc atg ggc gag 149l
Phe Thr Glu Ala Leu Pro Gly Thr Pro Leu Gln Glu Arg Met Gly Glu
480 485 490
tgt ctg cag cgc acg ggc acc agt gtc gta ctc aca tcc atc aac aac 1539
Cys Leu Gln Arg Thr Gly Thr Ser Val Val Leu Thr Ser Ile Asn Asn
495 500 505
atg gcc gcc ttc ctc atg gct gcc ctc gtt ccc atc cct gcg ctg cga 1587
Met Ala Ala Phe Leu Met Ala Ala Leu Val Pro Ile Pro Ala Leu Arg
510 515 520 525
gcc ttc tcc cta cag gcg gcc ata gtg gtt ggc tgc acc ttt gta gcc 1635
Ala Phe Ser Leu Gln Ala Ala Ile Val Val Gly Cys Thr Phe Val Ala
530 535 540
gtg atg ctt gtc ttc cca gcc atc ctc agc ctg gac cta cgg cgg cgc 1683
Val Met Leu Val Phe Pro Ala Ile Leu Ser Leu Asp Leu Arg Arg Arg
545 550 555
cac tgc cag cgc ctt gat gtg ctc tgc tgc ttc tcc agt ccc tgc tct 1731
His Cys Gln Arg Leu Asp Val Leu Cys Cys Phe Ser Ser Pro Cys Ser
560 565 570
gct cag gtg att cag atc ctg ccc cag gag ctg ggg gac ggg aca gta 1779
Ala Gln Val Ile Gln Ile Leu Pro Gln Glu Leu Gly Asp Gly Thr Val
575 580 585
cca gtg ggc att gcc cac ctc act gcc aca gtt csa gcc ttt acc cac 1827
Untitled[1][1][1].ST25痣样基底细胞癌综合征致病基因及其编码蛋白
Pro Val Gly Ile Ala His Leu Thr Ala Thr Val Gln Ala Phe Thr His
590 595 600 605
tgt gaa gcc agc agc cag cat gtg gtc acc atc ctg cct ccc caa gcc 1875
Cys Glu Ala Ser Ser Gln His Val Val Thr Ile Leu Pro Pro Gln Ala
610 615 620
cac ctg gtg ccc cca cct tct gac cca ctg ggc tct gag ctc ttc agc 1923
His Leu Val Pro Pro Pro Ser Asp Pro Leu Gly Ser Glu Leu Phe Ser
625 630 635
cct gga ggg tcc aca cgg gac ctt cta ggc cag gag gag gag aca agg 1971
Pro Gly Gly Ser Thr Arg Asp Leu Leu Gly Gln Glu Glu Glu Thr Arg
640 645 650
cag aag gca gcc tgc aag tcc ctg ccc tgt gcc cgc tgg aat ctt gcc 2019
Gln Lys Ala Ala Cys Lys Ser Leu Pro Cys Ala Arg Trp Asn Leu Ala
655 660 665
cat ttc gcc cgc tat cag ttt gcc ccg ttg ctg ctc cag tca cat gct 2067
His Phe Ala Arg Tyr Gln Phe Ala Pro Leu Leu Leu Gln Ser His Ala
670 675 680 685
aag gcc atc gtg ctg gtg ctc ttt ggt gct ctt ctg ggc ctg agc ctc 2115
Lys Ala Ile Val Leu Val Leu Phe Gly Ala Leu Leu Gly Leu Ser Leu
690 695 700
tac gga gcc acc ttg gtg caa gac ggc ctg gcc ctg acg gat gtg gtg 2163
Tyr Gly Ala Thr Leu Val Gln Asp Gly Leu Ala Leu Thr Asp Val Val
705 710 715
cct cgg ggc acc aag gag cat gcc ttc ctg age gcc cag ctc agg tac 2211
Pro Arg Gly Thr Lys Glu His Ala Phe Leu Ser Ala Gln Leu Arg Tyr
720 725 730
ttc tcc ctg tac gag gtg gcc ctg gtg acc cag ggt ggc ttt gac tac 2259
Phe Ser Leu Tyr Glu Val Ala Leu Val Thr Gln Gly Gly Phe Asp Tyr
735 740 745
gcc cac tcc caa cgc gcc ctc ttt gat ctg cac cag cgc ttc agt tcc 2307
Ala His Ser Gln Arg Ala Leu Phe Asp Leu His Gln Arg Phe Ser Ser
750 755 760 765
ctc aag gcg gtg ctg ccc cca ccg gcc acc cag gca ccc cgc acc tgg 2355
Leu Lys Ala Val Leu Pro Pro Pro Ala Thr Gln Ala Pro Arg Thr Trp
770 775 780
ctg cac tat tac cgc aac tgg cta cag gga atc cag gct gcc ttt gac 2403
Leu His Tyr Tyr Arg Asn Trp Leu Gln Gly Ile Gln Ala Ala Phe Asp
785 790 795
cag gac tgg gct tct ggg cgc atc acc cgc cac tcg tac cgc aat ggc 2451
Gln Asp Trp Ala Ser Gly Arg Ile Thr Arg His Ser Tyr Arg Asn Gly
800 805 810
tct gag gat ggg gcc ctg gcc tac aag ctg ctc atc cag act gga gac 2499
Ser Glu Asp Gly Ala Leu Ala Tyr Lys Leu Leu Ile Gln Thr Gly Asp
815 820 825
gcc cag gag cct ctg gat ttc age cag ctg acc aca agg aag ctg gtg 2547
Ala Gln Glu Pro Leu Asp Phe Ser Gln Leu Thr Thr Arg Lys Leu Val
830 835 840 845
gac aga gag gga ctg att cca ccc gag ctc ttc tac atg ggg ctg acc 2595
Asp Arg Glu Gly Leu Ile Pro Pro Glu Leu Phe Tyr Met Gly Leu Thr
850 855 860
gtg tgg gtg agc agt gac ccc ctg ggt ctg gca gcc tca cag gcc aac 2643
Val Trp Val Ser Ser Asp Pro Leu Gly Leu Ala Ala Ser Gln Ala Asn
865 870 875
ttc tac ccc cca cct cct gaa tgg ctg cac gac aaa tac gac acc acg 2691
Phe Tyr Pro Pro Pro Pro Glu Trp Leu His Asp Lys Tyr Asp Thr Thr
880 885 890
Untitled[1][1][1].ST25痣样基底细胞癌综合征致病基因及其编码蛋白
ggg gag aac ctt cgc atc ecg cca gct cag ccc ttg gag ttt gcc cag 2739
Gly Glu Asn Leu Arg Ile Pro Pro Ala Gln Pro Leu Glu Phe Ala Gln
895 900 905
ttc ccc ttc ctg ctg cgt ggc ctc cag aag act gca gac ttt gtg gag 2787
Phe Pro Phe Leu Leu Arg Gly Leu Gln Lys Thr Ala Asp Phe Val Glu
910 915 920 925
gcc atc gag ggg gcc cgg gca gca tgc gca gag gcc ggc cag gct ggg 2835
Ala Ile Glu Gly Ala Arg Ala Ala Cys Ala Glu Ala Gly Gln Ala Gly
930 935 940
gtg cac gcc tac ccc agc ggc tcc ccc ttc ctc ttc tgg gaa cag tat 2883
Val His Ala Tyr Pro Ser Gly Ser Pro Phe Leu Phe Trp Glu Gln Tyr
945 950 955
ctg ggc ctg cgg cgc tgc ttc ctg ctg gcc gtc tgc atc ctg ctg gtg 2931
Leu Gly Leu Arg Arg Cys Phe Leu Leu Ala Val Cys Ile Leu Leu Val
960 965 970
tgc act ttc ctc gtc tgt gct ctg ctg ctc ctc aac ccc tgg acg gct 2979
Cys Thr Phe Leu Val Cys Ala Leu Leu Leu Leu Asn Pro Trp Thr Ala
975 980 985
ggc ctc ata gtg ctg gtc ctg gcg atg atg aca gtg gaa ctc ttt ggt 3027
Gly Leu Ile Val Leu Val Leu Ala Met Met Thr Val Glu Leu Phe Gly
990 995 1000 1005
atc atg ggt ttc ctg ggc atc aag ctg agt gcc atc ccc gtg gtg 3072
Ile Met Gly Phe Leu Gly Ile Lys Leu Ser Ala Ile Pro Val Val
1010 1015 1020
atc ctt gtg gcc tct gta ggc att ggc gtt gag ttc aca gtc cac 3117
Ile Leu Val Ala Ser Val Gly Ile Gly Val Glu Phe Thr Val His
1025 1030 1035
gtg gct ctg ggc ttc ctg acc acc cag ggc agc cgg aac ctg cgg 3162
Val Ala Leu Gly Phe Leu Thr Thr Gln Gly Ser Arg Asn Leu Arg
1040 1045 1050
gcc gcc cat gcc ctt gag cac aca ttt gcc ccc gtg acc gat ggg 3207
Ala Ala His Ala Leu Glu His Thr Phe Ala Pro Val Thr Asp Gly
1055 1060 1065
gcc atc tcc aca ttg ctg ggt ctg ctc atg ctt gct ggt tcc cac 3252
Ala Ile Ser Thr Leu Leu Gly Leu Leu Met Leu Ala Gly Ser His
1070 1075 1080
ttt gac ttc att gta agg tac ttc ttt gcg gcg ctg aca gtg ctc 3297
Phe Asp Phe Ile Val Arg Tyr Phe Phe Ala Ala Leu Thr Val Leu
1085 1090 1095
acg ctc ctg ggc ctc ctc cat gga ctc gtg ctg ctg cct gtg ctg 3342
Thr Leu Leu Gly Leu Leu His Gly Leu Val Leu Leu Pro Val Leu
1100 1105 1110
ctg tcc atc ctg ggc ccg ccg cca gag gtg acc aca ccc tcg gca 3387
Leu Ser Ile Leu Gly Pro Pro Pro Glu Val Thr Thr Pro Ser Ala
1115 1120 1125
cca tcc ctc tac tcc cag ccc aag gga cgg ggt agg gag agg caa 3432
Pro Ser Leu Tyr Ser Gln Pro Lys Gly Arg Gly Arg Glu Arg Gln
1130 1135 1140
ggg aag gga cag agc cct gtg gcc cac aga cag gta cct ccc caa 3477
Gly Lys Gly Gln Ser Pro Val Ala His Arg Gln Val Pro Pro Gln
1145 1150 1155
cag gtg cca cca gct gaa ggt ggc agc ctc ctc ctt tcc cca gac 3522
Gln Val Pro Pro Ala Glu Gly Gly Ser Leu Leu Leu Ser Pro Asp
1160 1165 1170
acc atg ttc ctg ccc ctc agc cct cct ggc ttc ttc atg gga ccc 3567
Thr Met Phe Leu Pro Leu Ser Pro Pro Gly Phe Phe Met Gly Pro
1175 1180 1185
Untitled[1][1][1].ST25痣样基底细胞癌综合征致病基因及其编码蛋白
acc tta gac ttt taggatccag aacaaggtgc agggtttgcc ccaggcctca 3619
Thr Leu Asp Phe
acatcctgtc gcctgccagc tctcatatcc tgctggagac caacaagggc cccagcttcc 3679
caacagtcat ggtaatcccc agcgagatgc taaaggggac gggagcccca ggggcccgtg 3739
ggcttactgg ggctggtgtc tccccacag 3768
<210>14
<211>1189
<212>PRT
<213>人
<400>14
Met Thr Arg Ser Pro Pro Leu Arg Glu Leu Pro Pro Ser Tyr Thr Pro
1 5 10 15
Pro Ala Arg Thr Ala Ala Pro Gln Ile Leu Ala Gly Ser Leu Lys Ala
20 25 30
Pro Leu Trp Leu Arg Ala Tyr Phe Gln Gly Leu Leu Phe Ser Leu Gly
35 40 45
Cys Gly Ile Gln Arg His Cys Gly Lys Val Leu Phe Leu Gly Leu Leu
50 55 60
Ala Phe Gly Ala Leu Ala Leu Gly Leu Arg Met Ala Ile Ile Glu Thr
65 70 75 80
Asn Leu Glu Gln Leu Trp Val Glu Val Gly Ser Arg Val Ser Gln Glu
85 90 95
Leu His Tyr Thr Lys Glu Lys Leu Gly Glu Glu Ala Ala Tyr Thr Ser
100 105 110
Gln Met Leu Ile Gln Thr Ala Arg Gln Glu Gly Glu Asn Ile Leu Thr
115 120 125
Pro Glu Ala Leu Gly Leu His Leu Gln Ala Ala Leu Thr Ala Ser Lys
130 135 140
Val Gln Val Ser Leu Tyr Gly Lys Ser Trp Asp Leu Asn Lys Ile Cys
145 150 155 160
Tyr Lys Ser Gly Val Pro Leu Ile Glu Asn Gly Met Ile Glu Arg Met
165 170 175
Ile Glu Lys Leu Phe Pro Cys Val Ile Leu Thr Pro Leu Asp Cys Phe
180 185 190
Trp Glu Gly Ala Lys Leu Gln Gly Gly Ser Ala Tyr Leu Pro Gly Arg
195 200 205
Pro Asp Ile Gln Trp Thr Asn Leu Asp Pro Glu Gln Leu Leu Glu Glu
210 215 220
Untitled[1][1][1].ST25痣样基底细胞癌综合征致病基因及其编码蛋白
Leu Gly Pro Phe Ala Ser Leu Glu Gly Phe Arg Glu Leu Leu Asp Lys
225 230 235 240
Ala Gln Val Gly Gln Ala Tyr Val Gly Arg Pro Cys Leu His Pro Asp
245 250 255
Asp Leu His Cys Pro Pro Ser Ala Pro Asn His His Ser Arg Gln Ala
260 265 270
Pro Asn Val Ala His Glu Leu Ser Gly Gly Cys His Gly Phe Ser His
275 280 285
Lys Phe Met His Trp Gln Glu Glu Leu Leu Leu Gly Gly Met Ala Arg
290 295 300
Asp Pro Gln Gly Glu Leu Leu Arg Ala Glu Ala Leu Gln Ser Thr Phe
305 310 315 320
Leu Leu Met Ser Pro Arg Gln Leu Tyr Glu His Phe Arg Gly Asp Tyr
325 330 335
Gln Thr His Asp Ile Gly Trp Ser Glu Glu Gln Ala Ser Thr Val Leu
340 345 350
Gln Ala Trp Gln Arg Arg Phe Val Gln Leu Ala Gln Glu Ala Leu Pro
355 360 365
Glu Asn Ala Ser Gln Gln Ile His Ala Phe Ser Ser Thr Thr Leu Asp
370 375 380
Asp Ile Leu His Ala Phe Ser Glu Val Ser Ala Ala Arg Val Val Gly
385 390 395 400
Gly Tyr Leu Leu Met Leu Ala Tyr Ala Cys Val Thr Met Leu Arg Trp
405 410 415
Asp Cys Ala Gln Ser Gln Gly Ser Val Gly Leu Ala Gly Val Leu Leu
420 425 430
Val Ala Leu Ala Val Ala Ser Gly Leu Gly Leu Cys Ala Leu Leu Gly
435 440 445
Ile Thr Phe Asn Ala Ala Thr Thr Gln Val Leu Pro Phe Leu Ala Leu
450 455 460
Gly Ile Gly Val Asp Asp Val Phe Leu Leu Ala His Ala Phe Thr Glu
465 470 475 480
Ala Leu Pro Gly Thr Pro Leu Gln Glu Arg Met Gly Glu Cys Leu Gln
485 490 495
Arg Thr Gly Thr Ser Val Val Leu Thr Ser Ile Asn Asn Met Ala Ala
500 505 510
Phe Leu Met Ala Ala Leu Val Pro Ile Pro Ala Leu Arg Ala Phe Ser
515 520 525
Untitled[1][1][1].ST25痣样基底细胞癌综合征致病基因及其编码蛋白
Leu Gln Ala Ala Ile Val Val Gly Cys Thr Phe Val Ala Val Met Leu
530 535 540
Val Phe Pro Ala Ile Leu Ser Leu Asp Leu Arg Arg Arg His Cys Gln
545 550 555 560
Arg Leu Asp Val Leu Cys Cys Phe Ser Ser Pro Cys Ser Ala Gln Val
565 570 575
Ile Gln Ile Leu Pro Gln Glu Leu Gly Asp Gly Thr Val Pro Val Gly
580 585 590
Ile Ala His Leu Thr Ala Thr Val Gln Ala Phe Thr His Cys Glu Ala
595 600 605
Ser Ser Gln His Val Val Thr Ile Leu Pro Pro Gln Ala His Leu Val
610 615 620
Pro Pro Pro Ser Asp Pro Leu Gly Ser Glu Leu Phe Ser Pro Gly Gly
625 630 635 640
Ser Thr Arg Asp Leu Leu Gly Gln Glu Glu Glu Thr Arg Gln Lys Ala
645 650 655
Ala Cys Lys Ser Leu Pro Cys Ala Arg Trp Asn Leu Ala His Phe Ala
660 665 670
Arg Tyr Gln Phe Ala Pro Leu Leu Leu Gln Ser His Ala Lys Ala Ile
675 680 685
Val Leu Val Leu Phe Gly Ala Leu Leu Gly Leu Ser Leu Tyr Gly Ala
690 695 700
Thr Leu Val Gln Asp Gly Leu Ala Leu Thr Asp Val Val Pro Arg Gly
705 710 715 720
Thr Lys Glu His Ala Phe Leu Ser Ala Gln Leu Arg Tyr Phe Ser Leu
725 730 735
Tyr Glu Val Ala Leu Val Thr Gln Gly Gly Phe Asp Tyr Ala His Ser
740 745 750
Gln Arg Ala Leu Phe Asp Leu His Gln Arg Phe Ser Ser Leu Lys Ala
755 760 765
Val Leu Pro Pro Pro Ala Thr Gln Ala Pro Arg Thr Trp Leu His Tyr
770 775 780
Tyr Arg Asn Trp Leu Gln Gly Ile Gln Ala Ala Phe Asp Gln Asp Trp
785 790 795 800
Ala Ser Gly Arg Ile Thr Arg His Ser Tyr Arg Asn Gly Ser Glu Asp
805 810 815
Gly Ala Leu Ala Tyr Lys Leu Leu Ile Gln Thr Gly Asp Ala Gln Glu
820 825 830
Untitled[1][1][1].ST25痣样基底细胞癌综合征致病基因及其编码蛋白
Pro Leu Asp Phe Ser Gln Leu Thr Thr Arg Lys Leu Val Asp Arg Glu
835 840 845
Gly Leu Ile Pro Pro Glu Leu Phe Tyr Met Gly Leu Thr Val Trp Val
850 855 860
Ser Ser Asp Pro Leu Gly Leu Ala Ala Ser Gln Ala Ash Phe Tyr Pro
865 870 875 880
Pro Pro Pro Glu Trp Leu His Asp Lys Tyr Asp Thr Thr Gly Glu Asn
885 890 895
Leu Arg Ile Pro Pro Ala Gln Pro Leu Glu Phe Ala Gln Phe Pro Phe
900 905 910
Leu Leu Arg Gly Leu Gln Lys Thr Ala Asp Phe Val Glu Ala Ile Glu
915 920 925
Gly Ala Arg Ala Ala Cys Ala Glu Ala Gly Gln Ala Gly Val His Ala
930 935 940
Tyr Pro Ser Gly Ser Pro Phe Leu Phe Trp Glu Gln Tyr Leu Gly Leu
945 950 955 960
Arg Arg Cys Phe Leu Leu Ala Val Cys Ile Leu Leu Val Cys Thr Phe
965 970 975
Leu Val Cys Ala Leu Leu Leu Leu Asn Pro Trp Thr Ala Gly Leu Ile
980 985 990
Val Leu Val Leu Ala Met Met Thr Val Glu Leu Phe Gly Ile Met Gly
995 1000 1005
Phe Leu Gly Ile Lys Leu Ser Ala Ile Pro Val Val Ile Leu Val
1010 1015 1020
Ala Ser Val Gly Ile Gly Val Glu Phe Thr Val His Val Ala Leu
1025 1030 1035
Gly Phe Leu Thr Thr Gln Gly Ser Arg Asn Leu Arg Ala Ala His
1040 1045 1050
Ala Leu Glu His Thr Phe Ala Pro Val Thr Asp Gly Ala Ile Ser
1055 1060 1065
Thr Leu Leu Gly Leu Leu Met Leu Ala Gly Ser His Phe Asp Phe
1070 1075 1080
Ile Val Arg Tyr Phe Phe Ala Ala Leu Thr Val Leu Thr Leu Leu
1085 1090 1095
Gly Leu Leu His Gly Leu Val Leu Leu Pro Val Leu Leu Ser Ile
1100 1105 1110
Leu Gly Pro Pro Pro Glu Val Thr Thr Pro Ser Ala Pro Ser Leu
Untitled[1][1][1].ST25痣样基底细胞癌综合征致病基因及其编码蛋白
1115 1120 1125
Tyr Ser Gln Pro Lys Gly Arg Gly Arg Glu Arg Gln Gly Lys Gly
1130 1135 1140
Gln Ser Pro Val Ala His Arg Gln Val Pro Pro Gln Gln Val Pro
1145 1150 1155
Pro Ala Glu Gly Gly Ser Leu Leu Leu Ser Pro Asp Thr Met Phe
1160 1165 1170
Leu Pro Leu Ser Pro Pro Gly Phe Phe Met Gly Pro Thr Leu Asp
1175 1180 1185
Phe
<210>15
<211>3768
<212>DNA
<213>人
<220>
<221>CDS
<222>(13)..(3579)
<223>
<400>15
atccccgcca gc atg act cga tcg ccg ccc ctc aga gag ctg ccc ccg agt 51
Met Thr Arg Ser Pro Pro Leu Arg Glu Leu Pro Pro Ser
1 5 10
tac aca ccc cca gct cga acc gca gca ccc cag atc cta gct ggg agc 99
Tyr Thr Pro Pro Ala Arg Thr Ala Ala Pro Gln Ile Leu Ala Gly Ser
15 20 25
ctg aag gct cca ctc tgg ctt cgt gct tac ttc cag ggc ctg ctc ttc 147
Leu Lys Ala Pro Leu Trp Leu Arg Ala Tyr Phe Gln Gly Leu Leu Phe
30 35 40 45
tct ctg gga tgc ggg atc cag aga cat tgt ggc aaa gtg ctc ttt ctg 195
Ser Leu Gly Cys Gly Ile Gln Arg His Cys Gly Lys Val Leu Phe Leu
50 55 60
gga ctg ttg gcc ttt ggg gcc ctg gca tta ggt ctc cgc atg gcc att 243
Gly Leu Leu Ala Phe Gly Ala Leu Ala Leu Gly Leu Arg Met Ala Ile
65 70 75
att gag aca aac ttg gaa cag ctc tgg gta gaa gtg ggc agc cgg gtg 291
Ile Glu Thr Asn Leu Glu Gln Leu Trp Val Glu Val Gly Ser Arg Val
80 85 90
agc cag gag ctg cat tac acc aag gag aag ctg ggg gag gag gct gca 339
Ser Gln Glu Leu His Tyr Thr Lys Glu Lys Leu Gly Glu Glu Ala Ala
95 100 105
tac acc tct cag atg ctg ata cag acc gca cgc cag gag gga gag aac 387
Tyr Thr Ser Gln Met Leu Ile Gln Thr Ala Arg Gln Glu Gly Glu Asn
110 115 120 125
atc ctc aca ccc gaa gca ctt ggc ctc cac ctc cag gca gcc ctc act 435
Ile Leu Thr Pro Glu Ala Leu Gly Leu His Leu Gln Ala Ala Leu Thr
130 135 140
gcc agt aaa gtc caa gta tca ctc tat ggg aag tcc tgg gat ttg aac 483
Ala Ser Lys Val Gln Val Ser Leu Tyr Gly Lys Ser Trp Asp Leu Asn
145 150 155
aaa atc tgc tac aag tca gga gtt ccc ctt att gaa aat gga atg att 531
Untitled[1][1][1].ST25痣样基底细胞癌综合征致病基因及其编码蛋白
Lys Ile Cys Tyr Lys Ser Gly Val Pro Leu Ile Glu Asn Gly Met Ile
160 165 170
gag cgg atg att gag aag ctg ttt cog tgc gtg atc ctc acc ccc ctc 579
Glu Arg Met Ile Glu Lys Leu Phe Pro Cys Val Ile Leu Thr Pro Leu
175 180 185
gac tgc ttc tgg gag gga gcc aaa ctc caa ggg ggc tcc gcc tac ctg 627
Asp Cys Phe Trp Glu Gly Ala Lys Leu Gln Gly Gly Ser Ala Tyr Leu
190 195 200 205
ccc ggc cgc ccg gat atc cag tgg acc aac ctg gat cca gag cag ctg 675
Pro Gly Arg Pro Asp Ile Gln Trp Thr Asn Leu Asp Pro Glu Gln Leu
210 215 220
ctg gag gag ctg ggt ccc ttt gcc tcc ctt gag ggc ttc cgg gag ctg 723
Leu Glu Glu Leu Gly Pro Phe Ala Ser Leu Glu Gly Phe Arg Glu Leu
225 230 235
cta gac aag gca cag gtg ggc cag gcc tac gtg ggg cgg ccc tgt ctg 771
Leu Asp Lys Ala Gln Val Gly Gln Ala Tyr Val Gly Arg Pro Cys Leu
240 245 250
cac cct gat gac ctc cac tgc cca cct agt gcc ccc aac cat cac agc 819
His Pro Asp Asp Leu His Cys Pro Pro Ser Ala Pro Asn His His Ser
255 260 265
agg cag gct ccc aat gtg gct cac gag ctg agt ggg ggc tgc cat ggc 867
Arg Gln Ala Pro Asn Val Ala His Glu Leu Ser Gly Gly Cys His Gly
270 275 280 285
ttc tcc cac aaa ttc atg cac tgg cag gag gaa ttg ctg ctg gga ggc 915
Phe Ser His Lys Phe Met His Trp Gln Glu Glu Leu Leu Leu Gly Gly
290 295 300
atg gcc aga gac ccc caa gga gag ctg ctg agg gca gag gcc ctg cag 963
Met Ala Arg Asp Pro Gln Gly Glu Leu Leu Arg Ala Glu Ala Leu Gln
305 310 315
agc acc ttc ttg ctg atg agt ccc cgc cag ctg tac gag cat ttc cgg 1011
Ser Thr Phe Leu Leu Met Ser Pro Arg Gln Leu Tyr Glu His Phe Arg
320 325 330
ggt gac tat cag aca cat gac att ggc tgg agt gag gag cag gcc agc 1059
Gly Asp Tyr Gln Thr His Asp Ile Gly Trp Ser Glu Glu Gln Ala Ser
335 340 345
aca gtg cta caa gcc tgg cag cgg cgc ttt gtg cag ctg gcc cag gag 1107
Thr Val Leu Gln Ala Trp Gln Arg Arg Phe Val Gln Leu Ala Gln Glu
350 355 360 365
gcc ctg cct gag aac gct tcc cag cag atc cat gcc ttc tcc tcc acc 1155
Ala Leu Pro Glu Asn Ala Ser Gln Gln Ile His Ala Phe Ser Ser Thr
370 375 380
acc ctg gat gac atc ctg cat gcg ttc tct gaa gtc agt gct gcc cgt 1203
Thr Leu Asp Asp Ile Leu His Ala Phe Ser Glu Val Ser Ala Ala Arg
385 390 395
gtg gtg gga ggc tat ctg ctc atg ctg gcc tat gcc tgt gtg acc atg 1251
Val Val Gly Gly Tyr Leu Leu Met Leu Ala Tyr Ala Cys Val Thr Met
400 405 410
ctg cgg tgg gac tgc gcc cag tcc cag ggt tcc gtg ggc ctt gcc ggg 1299
Leu Arg Trp Asp Cys Ala Gln Ser Gln Gly Ser Val Gly Leu Ala Gly
415 420 425
gta ctg ctg gtg gcc ctg gcg gtg gcc tca ggc ctt ggg ctc tgt gcc 1347
Val Leu Leu Val Ala Leu Ala Val Ala Ser Gly Leu Gly Leu Cys Ala
430 435 440 445
ctg ctc ggc atc acc ttc aat gct gcc act acc cag gtg ctg ccc ttc 1395
Leu Leu Gly Ile Thr Phe Asn Ala Ala Thr Thr Gln Val Leu Pro Phe
450 455 460
Untitled[1][1][1].ST25痣样基底细胞癌综合征致病基因及其编码蛋白
ttg gct ctg gga ate ggc gtg gat gac gta ttc ctg ctg gcg cat gcc 1443
Leu Ala Leu Gly Ile Gly Val Asp Asp Val Phe Leu Leu Ala His Ala
465 470 475
ttc aca gag gct ctg cct ggc acc cct ctc cag gag cgc atg ggc gag 1491
Phe Thr Glu Ala Leu Pro Gly Thr Pro Leu Gln Glu Arg Met Gly Glu
480 485 490
tgt ctg cag cgc acg ggc acc agt gtc gta ctc aca tcc atc aac aac 1539
Cys Leu Gln Arg Thr Gly Thr Ser Val Val Leu Thr Ser Ile Asn Asn
495 500 505
atg gcc gcc ttc ctc atg gct gcc ctc gtt ccc atc cct gcg ctg cga 1587
Met Ala Ala Phe Leu Met Ala Ala Leu Val Pro Ile Pro Ala Leu Arg
510 515 520 525
gcc ttc tcc cta cag gcg gcc ata gtg gtt ggc tgc acc ttt gta gcc 1635
Ala Phe Ser Leu Gln Ala Ala Ile Val Val Gly Cys Thr Phe Val Ala
530 535 540
gtg atg ctt gtc ttc cca gcc atc ctc agc ctg gac cta cgg cgg cgc 1683
Val Met Leu Val Phe Pro Ala Ile Leu Ser Leu Asp Leu Arg Arg Arg
545 550 555
cac tgc cag cgc ctt gat gtg ctc tgc tgc ttc tcc agt ccc tgc tct 1731
His Cys Gln Arg Leu Asp Val Leu Cys Cys Phe Ser Ser Pro Cys Ser
560 565 570
gct cag gtg att cag atc ctg ccc cag gag ctg ggg gac ggg aca gta 1779
Ala Gln Val Ile Gln Ile Leu Pro Gln Glu Leu Gly Asp Gly Thr Val
575 580 585
cca gtg ggc att gcc cac ctc act gcc aca gtt caa gcc ttt acc cac 1827
Pro Val Gly Ile Ala His Leu Thr Ala Thr Val Gln Ala Phe Thr His
590 595 600 605
tgt gaa gcc agc agc cag cat gtg gtc acc atc ctg cct ccc caa gcc 1875
Cys Glu Ala Ser Ser Gln His Val Val Thr Ile Leu Pro Pro Gln Ala
610 615 620
cac ctg gtg ccc cca cct tct gac cca ctg ggc tct gag ctc ttc agc 1923
His Leu Val Pro Pro Pro Ser Asp Pro Leu Gly Ser Glu Leu Phe Ser
625 630 635
cct gga ggg tcc aca cgg gac ctt cta ggc cag gag gag gag aca agg 1971
Pro Gly Gly Ser Thr Arg Asp Leu Leu Gly Gln Glu Glu Glu Thr Arg
640 645 650
cag aag gca gcc tgc aag tcc ctg ccc tgt gcc cgc tgg aat ctt gcc 2019
Gln Lys Ala Ala Cys Lys Ser Leu Pro Cys Ala Arg Trp Asn Leu Ala
655 660 665
cat ttc gcc cgc tat cag ttt gcc ccg ttg ctg ctc cag tca cat gct 2067
His Phe Ala Arg Tyr Gln Phe Ala Pro Leu Leu Leu Gln Ser His Ala
670 675 680 685
aag gcc atc gtg ctg gtg ctc ttt ggt gct ctt ctg ggc ctg agc ctc 2115
Lys Ala Ile Val Leu Val Leu Phe Gly Ala Leu Leu Gly Leu Ser Leu
690 695 700
tac gga gcc acc ttg gtg caa gac ggc ctg gcc ctg acg gat gtg gtg 2163
Tyr Gly Ala Thr Leu Val Gln Asp Gly Leu Ala Leu Thr Asp Val Val
705 710 715
cct cag ggc acc aag gag cat gcc ttc ctg agc gcc cag ctc agg tac 2211
Pro Gln Gly Thr Lys Glu His Ala Phe Leu Ser Ala Gln Leu Arg Tyr
720 725 730
ttc tcc ctg tac gag gtg gcc ctg gtg acc cag ggt ggc ttt gac tac 2259
Phe Ser Leu Tyr Glu Val Ala Leu Val Thr Gln Gly Gly Phe Asp Tyr
735 740 745
gcc cac tcc caa cgc gcc ctc ttt gat ctg cac cag cgc ttc agt tcc 2307
Ala His Ser Gln Arg Ala Leu Phe Asp Leu His Gln Arg Phe Ser Ser
750 755 760 765
Untitled[1][1][1].ST25痣样基底细胞癌综合征致病基因及其编码蛋白
ctc aag gcg gtg ctg ccc cca ccg gcc acc cag gca ccc cgc acc tgg 2355
Leu Lys Ala Val Leu Pro Pro Pro Ala Thr Gln Ala Pro Arg Thr Trp
770 775 780
ctg cac tat tac cgc aac tgg cta cag gga atc cag gct gcc ttt gac 2403
Leu His Tyr Tyr Arg Asn Trp Leu Gln Gly Ile Gln Ala Ala Phe Asp
785 790 795
cag gac tgg gct tct ggg cgc atc acc cgc cac tcg tac cgc aat ggc 2451
Gln Asp Trp Ala Ser Gly Arg Ile Thr Arg His Ser Tyr Arg Asn Gly
800 805 810
tct gag gat ggg gcc ctg gcc tac aag ctg ctc atc cag act gga gac 2499
Ser Glu Asp Gly Ala Leu Ala Tyr Lys Leu Leu Ile Gln Thr Gly Asp
815 820 825
gcc cag gag cct ctg gat ttc agc cag ctg acc aca agg aag ctg gtg 2547
Ala Gln Glu Pro Leu Asp Phe Ser Gln Leu Thr Thr Arg Lys Leu Val
830 835 840 845
gac aga gag gga ctg att cca ccc gag ctc ttc tac atg ggg ctg acc 2595
Asp Arg Glu Gly Leu Ile Pro Pro Glu Leu Phe Tyr Met Gly Leu Thr
850 855 860
gtg tgg gtg agc agt gac ccc ctg ggt ctg gca gcc tca cag gcc aac 2643
Val Trp Val Ser Ser Asp Pro Leu Gly Leu Ala Ala Ser Gln Ala Asn
865 870 875
ttc tac ccc cca cct cct gaa tgg ctg cac gac aaa tac gac acc acg 2691
Phe Tyr Pro Pro Pro Pro Glu Trp Leu His Asp Lys Tyr Asp Thr Thr
880 885 890
ggg gag aac ctt cgc atc ccg cca gct cag ccc ttg gag ttt gcc cag 2739
Gly Glu Asn Leu Arg Ile Pro Pro Ala Gln Pro Leu Glu Phe Ala Gln
895 900 905
ttc ccc ttc ctg ctg cgt ggc ctc cag aag act gca gac ttt gtg gag 2787
Phe Pro Phe Leu Leu Arg Gly Leu Gln Lys Thr Ala Asp Phe Val Glu
910 915 920 925
gcc atc gag ggg gcc cgg gca gca tgc gca gag gcc ggc cag gct ggg 2835
Ala Ile Glu Gly Ala Arg Ala Ala Cys Ala Glu Ala Gly Gln Ala Gly
930 935 940
gtg cac gcc tac ccc agc ggc tcc ccc ttc ctc ttc tgg gaa cag tat 2883
Val His Ala Tyr Pro Ser Gly Ser Pro Phe Leu Phe Trp Glu Gln Tyr
945 950 955
ctg ggc ctg cgg cgc tgc ttc ctg ctg gcc gtc tgc atc ctg ctg gtg 2931
Leu Gly Leu Arg Arg Cys Phe Leu Leu Ala Val Cys Ile Leu Leu Val
960 965 970
tgc act ttc ctc gtc tgt gct ctg ctg ctc ctc aac ccc tgg acg gct 2979
Cys Thr Phe Leu Val Cys Ala Leu Leu Leu Leu Asn Pro Trp Thr Ala
975 980 985
ggc ctc ata gtg ctg gtc ctg gcg atg atg aca gtg gaa ctc ttt ggt 3027
Gly Leu Ile Val Leu Val Leu Ala Met Met Thr Val Glu Leu Phe Gly
990 995 1000 1005
atc atg ggt ttc ctg ggc atc aag ctg agt gcc atc ccc gtg gtg 3072
Ile Met Gly Phe Leu Gly Ile Lys Leu Ser Ala Ile Pro Val Val
1010 1015 1020
atc ctt gtg gcc tct gta ggc att ggc gtt gag ttc aca gtc cac 3117
Ile Leu Val Ala Ser Val Gly Ile Gly Val Glu Phe Thr Val His
1025 1030 1035
gtg gct ctg ggc ttc ctg acc acc cag ggc agc cgg aac ctg cgg 3162
Val Ala Leu Gly Phe Leu Thr Thr Gln Gly Ser Arg Asn Leu Arg
1040 1045 1050
gcc gcc cat gcc ctt gag cac aca ttt gcc ccc gtg acc gat ggg 3207
Ala Ala His Ala Leu Glu His Thr Phe Ala Pro Val Thr Asp Gly
Untitled[1][1][1].ST25痣样基底细胞癌综合征致病基因及其编码蛋白
1055 1060 1065
gcc atc tcc aca ttg ctg ggt ctg ctc atg ctt gct ggt tcc cac 3252
Ala Ile Ser Thr Leu Leu Gly Leu Leu Met Leu Ala Gly Ser His
1070 1075 1080
ttt gac ttc att gta agg tac ttc ttt gcg gcg ctg aca gtg ctc 3297
Phe Asp Phe Ile Val Arg Tyr Phe Phe Ala Ala Leu Thr Val Leu
1085 1090 1095
acg ctc ctg ggc ctc ctc cat gga ctc gtg ctg ctg cct gtg ctg 3342
Thr Leu Leu Gly Leu Leu His Gly Leu Val Leu Leu Pro Val Leu
1100 1105 1110
ctg tcc atc ctg ggc ccg ccg cca gag gtg acc aca ccc tcg gca 3387
Leu Ser Ile Leu Gly Pro Pro Pro Glu Val Thr Thr Pro Ser Ala
1115 1120 1125
cea tcc ctc tac tcc cag ccc aag gga cgg ggt agg gag agg caa 3432
Pro Ser Leu Tyr Ser Gln Pro Lys Gly Arg Gly Arg Glu Arg Gln
1130 1135 1140
ggg aag gga cag agc cct gtg gcc cac aga cag gta cct ccc caa 3477
Gly Lys Gly Gln Ser Pro Val Ala His Arg Gln Val Pro Pro Gln
1145 1150 1155
cag gtg cca cca gct gaa ggt ggc agc ctc ctc ctt tcc cca gac 3522
Gln Val Pro Pro Ala Glu Gly Gly Ser Leu Leu Leu Ser Pro Asp
1160 1165 1170
acc atg ttc ctg ccc ctc agc cct cct ggc ttc ttc atg gga ccc 3567
Thr Met Phe Leu Pro Leu Ser Pro Pro Gly Phe Phe Met Gly Pro
1175 1180 1185
acc tta gac ttt taggatccag aacaaggtgc agggtttgcc ccaggcctca 3619
Thr Leu Asp Phe
acatcctgtc gcctgccagc tctcatatcc tgctggagac caacaagggc cccagcttcc 3679
caacagtcat ggtaatcccc agcgagatgc taaaggggac gggagcccca ggggcccgtg 3739
ggcttactgg ggctggtgtc tccccacag 3768
<210>16
<211>1189
<212>PRT
<213>人
<400>16
Met Thr Arg Ser Pro Pro Leu Arg Glu Leu Pro Pro Ser Tyr Thr Pro
1 5 10 15
Pro Ala Arg Thr Ala Ala Pro Gln Ile Leu Ala Gly Ser Leu Lys Ala
20 25 30
Pro Leu Trp Leu Arg Ala Tyr Phe Gln Gly Leu Leu Phe Ser Leu Gly
35 40 45
Cys Gly Ile Gln Arg His Cys Gly Lys Val Leu Phe Leu Gly Leu Leu
50 55 60
Ala Phe Gly Ala Leu Ala Leu Gly Leu Arg Met Ala Ile Ile Glu Thr
65 70 75 80
Asn Leu Glu Gln Leu Trp Val Glu Val Gly Ser Arg Val Ser Gln Glu
85 90 95
Untitled[1][1][1].ST25痣样基底细胞癌综合征致病基因及其编码蛋白
Leu His Tyr Thr Lys Glu Lys Leu Gly Glu Glu Ala Ala Tyr Thr Ser
100 105 110
Gln Met Leu Ile Gln Thr Ala Arg Gln Glu Gly Glu Asn Ile Leu Thr
115 120 125
Pro Glu Ala Leu Gly Leu His Leu Gln Ala Ala Leu Thr Ala Ser Lys
130 135 140
Val Gln Val Ser Leu Tyr Gly Lys Ser Trp Asp Leu Asn Lys Ile Cys
145 150 155 160
Tyr Lys Ser Gly Val Pro Leu Ile Glu Ash Gly Met Ile Glu Arg Met
165 170 175
Ile Glu Lys Leu Phe Pro Cys Val Ile Leu Thr Pro Leu Asp Cys Phe
180 185 190
Trp Glu Gly Ala Lys Leu Gln Gly Gly Ser Ala Tyr Leu Pro Gly Arg
195 200 205
Pro Asp Ile Gln Trp Thr Asn Leu Asp Pro Glu Gln Leu Leu Glu Glu
210 215 220
Leu Gly Pro Phe Ala Ser Leu Glu Gly Phe Arg Glu Leu Leu Asp Lys
225 230 235 240
Ala Gln Val Gly Gln Ala Tyr Val Gly Arg Pro Cys Leu His Pro Asp
245 250 255
Asp Leu His Cys Pro Pro Ser Ala Pro Asn His His Ser Arg Gln Ala
260 265 270
Pro Asn Val Ala His Glu Leu Ser Gly Gly Cys His Gly Phe Ser His
275 280 285
Lys Phe Met His Trp Gln Glu Glu Leu Leu Leu Gly Gly Met Ala Arg
290 295 300
Asp Pro Gln Gly Glu Leu Leu Arg Ala Glu Ala Leu Gln Ser Thr Phe
305 310 315 320
Leu Leu Met Ser Pro Arg Gln Leu Tyr Glu His Phe Arg Gly Asp Tyr
325 330 335
Gln Thr His Asp Ile Gly Trp Ser Glu Glu Gln Ala Ser Thr Val Leu
340 345 350
Gln Ala Trp Gln Arg Arg Phe Val Gln Leu Ala Gln Glu Ala Leu Pro
355 360 365
Glu Ash Ala Ser Gln Gln Ile His Ala Phe Ser Ser Thr Thr Leu Asp
370 375 380
Asp Ile Leu His Ala Phe Ser Glu Val Ser Ala Ala Arg Val Val Gly
385 390 395 400
Untitled[1][1][1].ST25痣样基底细胞癌综合征致病基因及其编码蛋白
Gly Tyr Leu Leu Met Leu Ala Tyr Ala Cys Val Thr Met Leu Arg Trp
405 410 415
Asp Cys Ala Gln Ser Gln Gly Ser Val Gly Leu Ala Gly Val Leu Leu
420 425 430
Val Ala Leu Ala Val Ala Ser Gly Leu Gly Leu Cys Ala Leu Leu Gly
435 440 445
Ile Thr Phe Asn Ala Ala Thr Thr Gln Val Leu Pro Phe Leu Ala Leu
450 455 460
Gly Ile Gly Val Asp Asp Val Phe Leu Leu Ala His Ala Phe Thr Glu
465 470 475 480
Ala Leu Pro Gly Thr Pro Leu Gln Glu Arg Met Gly Glu Cys Leu Gln
485 490 495
Arg Thr Gly Thr Ser Val Val Leu Thr Ser Ile Asn Asn Met Ala Ala
500 505 510
Phe Leu Met Ala Ala Leu Val Pro Ile Pro Ala Leu Arg Ala Phe Ser
515 520 525
Leu Gln Ala Ala Ile Val Val Gly Cys Thr Phe Val Ala Val Met Leu
530 535 540
Val Phe Pro Ala Ile Leu Ser Leu Asp Leu Arg Arg Arg His Cys Gln
545 550 555 560
Arg Leu Asp Val Leu Cys Cys Phe Ser Ser Pro Cys Ser Ala Gln Val
565 570 575
Ile Gln Ile Leu Pro Gln Glu Leu Gly Asp Gly Thr Val Pro Val Gly
580 585 590
Ile Ala His Leu Thr Ala Thr Val Gln Ala Phe Thr His Cys Glu Ala
595 600 605
Ser Ser Gln His Val Val Thr Ile Leu Pro Pro Gln Ala His Leu Val
610 615 620
Pro Pro Pro Ser Asp Pro Leu Gly Ser Glu Leu Phe Ser Pro Gly Gly
625 630 635 640
Ser Thr Arg Asp Leu Leu Gly Gln Glu Glu Glu Thr Arg Gln Lys Ala
645 650 655
Ala Cys Lys Ser Leu Pro Cys Ala Arg Trp Asn Leu Ala His Phe Ala
660 665 670
Arg Tyr Gln Phe Ala Pro Leu Leu Leu Gln Ser His Ala Lys Ala Ile
675 680 685
Val Leu Val Leu Phe Gly Ala Leu Leu Gly Leu Ser Leu Tyr Gly Ala
机译： 一种治疗高眼压症的方法，其包括与编码蛋白血清淀粉样蛋白a（SAA）的基因相互作用的小分子。
机译： Alström综合征基因变异编码蛋白质和诊断Alström综合征的方法。
机译： 用于量化定义蛋白质聚集疾病或淀粉样变性或蛋白质解折叠病的内源性蛋白质致病性聚集体或寡聚体的标准，含多肽的树枝状大分子，图案的产生方法，图案的使用，包含至少一种标准的试剂盒和定量内源性蛋白质的方法定义蛋白质聚集疾病或淀粉样变性或蛋白质解折叠病的致病性聚集体或寡聚体
