Low Diversity of Human Variation Despite Mostly Mild Functional Impact of De Novo Variants.

ABSTRACT: Non-synonymous Single Nucleotide Variants (nsSNVs), resulting in single amino acid variants (SAVs), are important drivers of evolutionary adaptation across the tree of life. Humans carry on average over 10,000 SAVs per individual genome, many of which likely have little to no impact on the function of the protein they affect. Experimental evidence for protein function changes as a result of SAVs remain sparse - a situation that can be somewhat alleviated by predicting their impact using computational methods. Here, we used SNAP to examine both observed and in silico generated human variation in a set of 1,265 proteins that are consistently found across a number of diverse species. The number of SAVs that are predicted to have any functional effect on these proteins is smaller

SUBMITTER: Mahlich Y 

PROVIDER: S-EPMC8012514 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature