期刊
HUMAN MUTATION
卷 33, 期 2, 页码 359-363出版社
WILEY-BLACKWELL
DOI: 10.1002/humu.21656
关键词
nonsynonymous SNPs; protein structure; interactome; bioinformatics
资金
- MRC
- Majlis Amanah Rakyat (MARA) Malaysia
- BBSRC [BB/F02048/1]
Many nonsynonymous single nucleotide polymorphisms (nsSNPs) are disease causing due to effects at protein-protein interfaces. We have integrated a database of the three-dimensional (3D) structures of human protein/protein complexes and the humsavar database of nsSNPs. We analyzed the location of nsSNPS in terms of their location in the protein core, at protein-protein interfaces, and on the surface when not at an interface. Disease-causing nsSNPs that do not occur in the protein core are preferentially located at protein-protein interfaces rather than surface noninterface regions when compared to random segregation. The disruption of the protein-protein interaction can be explained by a range of structural effects including the loss of an electrostatic salt bridge, the destabilization due to reduction of the hydrophobic effect, the formation of a steric clash, and the introduction of a proline altering the main-chain conformation. Hum Mutat 33:359-363, 2012. (C) 2011 Wiley Periodicals, Inc.
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