On human disease-causing amino acid variants: statistical study of sequence and structural patterns.

ABSTRACT: Statistical analysis was carried out on large set of naturally occurring human amino acid variations, and it was demonstrated that there is a preference for some amino acid substitutions to be associated with diseases. At an amino acid sequence level, it was shown that the disease-causing variants frequently involve drastic changes in amino acid physicochemical properties of proteins such as charge, hydrophobicity, and geometry. Structural analysis of variants involved in diseases and being frequently observed in human population showed similar trends: disease-causing variants tend to cause more changes in hydrogen bond network and salt bridges as compared with harmless amino acid mutations. Analysis of thermodynamics data reported in the literature, both experimental and computational, in

SUBMITTER: Petukh M 

PROVIDER: S-EPMC4409542 | biostudies-literature | 2015 May

REPOSITORIES: biostudies-literature