Prediction of phenotypes of missense mutations in human proteins from biological assemblies.

ABSTRACT: Single nucleotide polymorphisms (SNPs) are the most frequent variation in the human genome. Nonsynonymous SNPs that lead to missense mutations can be neutral or deleterious, and several computational methods have been presented that predict the phenotype of human missense mutations. These methods use sequence-based and structure-based features in various combinations, relying on different statistical distributions of these features for deleterious and neutral mutations. One structure-based feature that has not been studied significantly is the accessible surface area within biologically relevant oligomeric assemblies. These assemblies are different from the crystallographic asymmetric unit for more than half of X-ray crystal structures. We find that mutations in the core of proteins or in

SUBMITTER: Wei Q 

PROVIDER: S-EPMC3552143 | biostudies-literature | 2013 Feb

REPOSITORIES: biostudies-literature