The DBSAV Database: Predicting Deleteriousness of Single Amino Acid Variations in the Human Proteome.

ABSTRACT: Deleterious single amino acid variation (SAV) is one of the leading causes of human diseases. Evaluating the functional impact of SAVs is crucial for diagnosis of genetic disorders. We previously developed a deep convolutional neural network predictor, DeepSAV, to evaluate the deleterious effects of SAVs on protein function based on various sequence, structural, and functional properties. DeepSAV scores of rare SAVs observed in the human population are aggregated into a gene-level score called GTS (Gene Tolerance of rare SAVs) that reflects a gene's tolerance to deleterious missense mutations and serves as a useful tool to study gene-disease associations. In this study, we aim to enhance the performance of DeepSAV by using expanded datasets of pathogenic and benign variants, more features,

SUBMITTER: Pei J 

PROVIDER: S-EPMC8119332 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature