Predicting Pathology of Missense Mutations through Protein-Specific Evolutionary Pattern.

ABSTRACT: Missense mutations, which are single base pair genetic alternation resulting in a different amino acid, are among the most common occurring variants in exon regions of the human genome and may lead to diseases. Thus to assess the effects of missense mutations, it is essential to investigate the evolutionary history of the protein under selection pressures. In this study, we employ a continuous-time Markov model to investigate the evolutionary patterns in protein sequences and a Bayesian Markov chain Monte Carlo method to estimate the substitution rates for protein of interest, from which we obtain scoring matrices. Specifically, we examined the evolutionary patterns of protein sequences containing missense mutations using a species tree to define the phylogeny of the protein of interest. W

SUBMITTER: Ye B 

PROVIDER: S-EPMC10984725 | biostudies-literature | 2023 Jul

REPOSITORIES: biostudies-literature