The properties of human disease mutations at protein interfaces.

ABSTRACT: The assembly of proteins into complexes and their interactions with other biomolecules are often vital for their biological function. While it is known that mutations at protein interfaces have a high potential to be damaging and cause human genetic disease, there has been relatively little consideration for how this varies between different types of interfaces. Here we investigate the properties of human pathogenic and putatively benign missense variants at homomeric (isologous and heterologous), heteromeric, DNA, RNA and other ligand interfaces, and at different regions in proteins with respect to those interfaces. We find that different types of interfaces vary greatly in their propensity to be associated with pathogenic mutations, with homomeric heterologous and DNA interfaces being pa

SUBMITTER: Livesey BJ 

PROVIDER: S-EPMC8849535 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature