Protein-protein and protein-nucleic acid binding residues important for common and rare sequence variants in human.

Abstract excerpt

BACKGROUND: Any two unrelated people differ by about 20,000 missense mutations (also referred to as SAVs: Single Amino acid Variants or missense SNV). Many SAVs have been predicted to strongly affect molecular protein function. Common SAVs (> 5% of population) were predicted to have, on average, more effect on molecular protein function than rare SAVs (< 1% of population). We hypothesized that the prevalence of...

Topics

• Amino Acids
• Base Sequence
• Female
• Genetic Variation
• Humans
• Macromolecular Substances
• Male
• Models, Molecular
• Mutation, Missense
• Nucleic Acids
• Protein Binding