Venus: Elucidating the Impact of Amino Acid Variants on Protein Function Beyond Structure Destabilisation.

ABSTRACT: Exploring the functional effect of a non-synonymous coding variant at the protein level requires multiple pieces of information to be interpreted appropriately. This is particularly important when embarking on the study of a potentially pathogenic variant linked to a rare or monogenic disease. Whereas accurate protein stability predictions alone are generally informative, other effects, such as disruption of post-translational modifications or weakened ligand binding, may also contribute to the disease phenotype. Furthermore, consideration of nearby variants that are found in the healthy population may strengthen or refute a given mechanistic hypothesis. Whilst there are several bioinformatics tools available that score a genetic variant in terms of deleteriousness, there is no single tool

SUBMITTER: Ferla MP 

PROVIDER: S-EPMC9742853 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature