Computational Analysis of the Influence of Missense Mutations upon Protein Structure and Function

机译：错义突变对蛋白质结构和功能影响的计算分析

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Distinguish harmful missense nucleotide substitutions from single nucleotide polymorphisms are a difficult problem usually to be accomplished through functional in vivo analyses. In this study, instead current biochemical methods, the effects of missense mutations upon protein structure and function were assayed by means of computational methods and information from the databases. For this order, the effects of new missense mutations in exon 5 of PTEN gene upon protein structure and function were examined. The gene coding for PTEN was identified and localized on chromosome region 10q23.3 as the tumor suppressor gene. The utilization of these methods were shown that c.319G>A and c.341T>G missense mutations that were recognized in patients with breast cancer and Cowden disease, could be pathogenic. This method could be use for analysis of missense mutation in others genes.

机译：从单核苷酸多态性中区分有害的错义核苷酸取代是一个通常通过功能性体内分析来完成的难题。在这项研究中，代替当前的生化方法，通过计算方法和来自数据库的信息来分析错义突变对蛋白质结构和功能的影响。为此，检查了PTEN基因第5外显子中新的错义突变对蛋白质结构和功能的影响。鉴定出编码PTEN的基因，并将其定位在染色体区域10q23.3上作为抑癌基因。这些方法的使用表明，在乳腺癌和卡登病患者中识别出的c.319G> A和c.341T> G错义突变可能是致病的。该方法可用于分析其他基因的错义突变。

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来源
《1st workshop on breaking frontiers of computational biology 2009》|2009年|P.7-9|共3页
会议地点 Ischia(IT);Ischia(IT)
作者
Isar Nassiri; rnBahram Goliaei;
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作者单位

Tehran University Dep. Bioinformatics Tehran, Iran;

rnTehran University Dep. Bioinformatics Tehran, Iran;

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会议组织
原文格式 PDF
正文语种 eng
中图分类计算技术、计算机技术;生物工程学（生物技术）;
关键词
bioinformatics; missense mutations; PTEN tumor suppressor gene;

机译：生物信息学错义突变PTEN抑癌基因;

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4. Computational Analysis of the Influence of Missense Mutations upon Protein Structure and Function [C] . Workshop on breaking frontiers of computational biology . 2009

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Computational Analysis of the Influence of Missense Mutations upon Protein Structure and Function

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