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Curr Opin Struct Biol. 2015 Jun;32:18-24. doi: 10.1016/j.sbi.2015.01.003. Epub 2015 Feb 4.

Structural and physico-chemical effects of disease and non-disease nsSNPs on proteins.

Author information

1
118 Kinard Laboratory, Department of Physics, Clemson University, Clemson, SC 29634-0978, USA.
2
118 Kinard Laboratory, Department of Physics, Clemson University, Clemson, SC 29634-0978, USA. Electronic address: ealexov@clemson.edu.

Abstract

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.

PMID:
25658850
PMCID:
PMC4511717
DOI:
10.1016/j.sbi.2015.01.003
[Indexed for MEDLINE]
Free PMC Article

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