Analyzing effects of naturally occurring missense mutations.
Analyzing effects of naturally occurring missense mutations.
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DOI：
10.1155/2012/805827
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发表时间：
2012
影响因子：
--
通讯作者：
Alexov E
中科院分区：
文献类型：
--
作者：
Zhang Z;Miteva MA;Wang L;Alexov E
基因组中的单点突变，例如单核苷酸多态性（single-nucleotide polymorphism，SNP）或罕见基因突变，是指基因组序列中一个核苷酸改变为另一个核苷酸。其中一些会在相应的蛋白质序列中产生氨基酸取代（错义突变）;其他则不会。本文重点介绍了导致相应蛋白质氨基酸序列变化的基因突变以及如何评估其对蛋白质野生型特征的影响。现有的方法和途径预测突变对蛋白质的稳定性，结构和动力学的影响进行了概述和讨论的基本原则。可用的资源，无论是作为独立的应用程序或网络服务器，以及指出。需要强调的是，理解这些错义突变引起的这些效应背后的分子机制对于检测致病突变至关重要。本文提供了几个应用基于三维结构的方法来模拟蛋白质稳定性和错义突变引起的蛋白质-蛋白质相互作用的影响的例子。
Single-point mutation in genome, for example, single-nucleotide polymorphism (SNP) or rare genetic mutation, is the change of a single nucleotide for another in the genome sequence. Some of them will produce an amino acid substitution in the corresponding protein sequence (missense mutations); others will not. This paper focuses on genetic mutations resulting in a change in the amino acid sequence of the corresponding protein and how to assess their effects on protein wild-type characteristics. The existing methods and approaches for predicting the effects of mutation on protein stability, structure, and dynamics are outlined and discussed with respect to their underlying principles. Available resources, either as stand-alone applications or webservers, are pointed out as well. It is emphasized that understanding the molecular mechanisms behind these effects due to these missense mutations is of critical importance for detecting disease-causing mutations. The paper provides several examples of the application of 3D structure-based methods to model the effects of protein stability and protein-protein interactions caused by missense mutations as well.
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单点突变对蛋白质稳定性的三态预测发生了变化。
影响因子：
3
作者：
Capriotti, Emidio;Fariselli, Piero;Rossi, Ivan;Casadio, Rita
通讯作者：
Casadio, Rita
DOI：
10.1046/j.1432-1033.2003.03917.x
发表时间：
2004-01-01
期刊：
EUROPEAN JOURNAL OF BIOCHEMISTRY
影响因子：
--
作者：
Alexov, E
通讯作者：
Alexov, E
影响因子：
5.6
作者：
ABAGYAN, R;TOTROV, M
通讯作者：
TOTROV, M
影响因子：
5.8
作者：
Capriotti, E;Fariselli, P;Casadio, R
通讯作者：
Casadio, R
影响因子：
--
作者：
BATTITI, R
通讯作者：
BATTITI, R