Distribution of single-nucleotide variants on protein-protein interaction sites and its relationship with minor allele frequency.

ABSTRACT: Recent advances in DNA sequencing techniques have identified rare single-nucleotide variants with less than 1% minor allele frequency. Despite the growing interest and physiological importance of rare variants in genome sciences, less attention has been paid to the allele frequency of variants in protein sciences. To elucidate the characteristics of genetic variants on protein interaction sites, from the viewpoints of the allele frequency and the structural position of variants, we mapped about 20,000 human SNVs onto protein complexes. We found that variants are less abundant in protein interfaces, and specifically the core regions of interfaces. The tendency to "avoid" the interfacial core is stronger among common variants than rare variants. As amino acid substitutions, the trend of muta

SUBMITTER: Nishi H 

PROVIDER: S-EPMC4815344 | biostudies-literature | 2016 Feb

REPOSITORIES: biostudies-literature