Structural and physico-chemical effects of disease and non-disease nsSNPs on proteins.
Structural and physico-chemical effects of disease and non-disease nsSNPs on proteins.
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DOI：
10.1016/j.sbi.2015.01.003
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发表时间：
2015-06
影响因子：
6.8
通讯作者：
Alexov E
中科院分区：
文献类型：
--
作者：
Kucukkal TG;Petukh M;Li L;Alexov E
本文着重介绍了天然突变对蛋白质结构特征和理化性质的影响。所考虑的基本蛋白质特征是稳定性、动力学和蛋白质的结合，以及评估突变对这些大分子特征的影响的方法。强调指出，上述实体大多反映了所考虑的大分子的全球特征，而给定的突变可能会改变局部结构特征，如盐桥和氢键，而不影响全球结构特征。此外，还指出致病突变往往涉及氨基酸物理化学性质的剧烈变化，如电荷、疏水性和几何构型，并且与多态突变相比，表面暴露较少。
This review emphasizes the effects of naturally occurring mutations on structural features and physico-chemical properties of proteins. The basic protein characteristics considered are stability, dynamics, and the binding of proteins and methods for assessing effects of mutations on these macromolecular characteristics are briefly outlined. It is emphasized that the above entities mostly reflect global characteristics of considered macromolecules, while given mutations may alter the local structural features such as salt bridges and hydrogen bonds without affecting the global ones. Furthermore, it is pointed out that disease-causing mutations frequently involve a drastic change of amino acid physico-chemical properties such as charge, hydrophobicity, and geometry, and are less surface exposed than polymorphic mutations.