Article
Protein-protein interaction sites are hot spots for disease-associated nonsynonymous SNPs.
Human mutation - 1 Feb 2012
David Alessia, Razali Rozami, Wass Mark N, Sternberg Michael J E
Abstract excerpt
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...
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