Journal
HUMAN MUTATION
Volume 17, Issue 4, Pages 263-270Publisher
WILEY
DOI: 10.1002/humu.22
Keywords
SNP; missense mutation; protein structure; disease; modeling; structural biology
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Inherited disease susceptibility in humans is most commonly associated with single nucleotide polymorphisms (SNPs), The mechanisms by which this occurs are still poorly understood, We have analyzed the effect of a see of disease-causing missense mutations arising from SNPs, and a set of newly determined SNPs from the general population. Results of in vitro mutagenesis studies, together with the protein structural context of each mutation, are used to develop a model for assigning a mechanism of action of each mutation at the protein level. Ninety percent of the known disease-causing missense mutations examined fit this model, with the vast majority affecting protein stability, through a variety of energy related factors. Zn sharp contrast, over 70% of the population set are found to be neutral. The remaining 30% are potentially involved in polygenic disease. Hum Mutat 17:263-270, 2001, (C) 2001 Wiley-Liss, Inc.
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