Compendium of proteins containing segments that exhibit zero-tolerance to amino acid variation in humans.

ABSTRACT: Genetic missense tolerance ratio (MTR) analysis systematically evaluates all possible segments in a given protein-encoding transcript found in the human population. This method scores each segment for the number of observed missense variants versus the number of silent mutations in that same segment. An MTR score of 0 indicates that no missense mutations are observed within a given segment. This is indicative of evolutionary purifying selection, which excludes mutations in that segment from the general human population. Here, we conducted MTR analysis on each of the roughly 20,000 protein-encoding human genes. It was seen that there are 257 genes with at least one 31-residue encoding segment with MTR = 0 (1.3% of all human genes). The proteins encoded by these 257 genes were tabulated alon

SUBMITTER: Sanders AL 

PROVIDER: S-EPMC9387208 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature