Missense3D-DB web catalogue: an atom-based analysis and repository of 4M human protein-coding genetic variants.

ABSTRACT: The interpretation of human genetic variation is one of the greatest challenges of modern genetics. New approaches are urgently needed to prioritize variants, especially those that are rare or lack a definitive clinical interpretation. We examined 10,136,597 human missense genetic variants from GnomAD, ClinVar and UniProt. We were able to perform large-scale atom-based mapping and phenotype interpretation of 3,960,015 of these variants onto 18,874 experimental and 84,818 in house predicted three-dimensional coordinates of the human proteome. We demonstrate that 14% of amino acid substitutions from the GnomAD database that could be structurally analysed are predicted to affect protein structure (n = 568,548, of which 566,439 rare or extremely rare) and may, therefore, have a yet unknown dis

SUBMITTER: Khanna T 

PROVIDER: S-EPMC8052235 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature