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首页> 外文期刊>Journal of Cellular Physiology >AVPR2 variants and mutations in nephrogenic diabetes insipidus: review and missense mutation significance.
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AVPR2 variants and mutations in nephrogenic diabetes insipidus: review and missense mutation significance.

机译：AVPR2变体,在肾发生的突变尿崩症:审查和错义突变的意义。

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Almost 90% of nephrogenic diabetes insipidus (NDI) is due to mutations in the arginine-vasopressin receptor 2 gene (AVPR2). We retrospectively examined all the published mutations/variants in AVPR2. We planned to perform a comprehensive review of all the AVPR2 mutations/variants and to test whether any amino acid change causing a missense mutation is significantly more or less common than others. We performed a Medline search and collected detailed information regarding all AVPR2 mutations and variants. We performed a frequency comparison between mutated and wild-type amino acids and codons. We predicted the mutation effect or reported it based on published in vitro studies. We also reported the ethnicity of each mutation/variant carrier. In summary, we identified 211 AVPR2 mutations which cause NDI in 326 families and 21 variants which do not cause NDI in 71 NDI families. We described 15 different types of mutations including missense, frameshift, inframe deletion, deletion, insertion, nonsense, duplication, splicing and combined mutations. The missense mutations represent the 55.83% of all the NDI published families. Arginine and tyrosine are significantly (P = 4.07E-08 and P = 3.27E-04, respectively) the AVPR2 most commonly mutated amino acids. Alanine and glutamate are significantly (P = 0.009 and P = 0.019, respectively) the least mutated AVPR2 amino acids. The spectrum of mutations varies from rare gene variants or polymorphisms not causing NDI to rare mutations causing NDI, among which arginine and tyrosine are the most common missense. The AVPR2 mutations are spread world-wide. Our study may serve as an updated review, comprehensive of all AVPR2 variants and specific gene locations. J. Cell. Physiol. 217: 605-617, 2008. (c) 2008 Wiley-Liss, Inc.
机译：几乎90%的肾原性的尿崩症(NDI)是由于精氨酸抗利尿激素突变受体2基因(AVPR2)。检查所有的出版突变/变异AVPR2。审查所有的AVPR2 /变异和突变测试是否有氨基酸改变引起错义突变明显或多或少常见的比别人。并收集详细的信息AVPR2突变和变异。比较突变和频率野生型氨基酸和密码子。突变效应或基于报道在体外研究中发表。每个突变载体/变体的种族。总结,我们发现211 AVPR2突变在326个家庭和21个变种引起抗利尿71年不会引起NDI NDI的家庭。包括15个不同类型的突变错义、转移、inframe删除、删除插入,胡说,重复,拼接和结合突变。代表了55.83%的NDI出版家庭。(P = 4.07 e-08 P = 3.27 e-04,分别)AVPR2最常见的突变氨基酸。和谷氨酸显著(P = 0.009, P分别为= 0.019)的突变AVPR2最少氨基酸。罕见的基因变异和多态性导致NDI罕见突变引起抗利尿等精氨酸和酪氨酸是最常见的吗错义。世界各地。审查,综合所有AVPR2变异和特定基因的位置。605 - 617年,2008年。

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