HPMPdb: A machine learning-ready database of protein molecular phenotypes associated to human missense variants.

ABSTRACT: Current human Single Amino acid Variants (SAVs) databases provide a link between a SAVs and their effect on the carrier individual phenotype, often dividing them into Deleterious/Neutral variants. This is a very coarse-grained description of the genotype-to-phenotype relationship because it relies on un-realistic assumptions such as the perfect Mendelian behavior of each SAV and considers only dichotomic phenotypes. Moreover, the link between the effect of a SAV on a protein (its molecular phenotype) and the individual phenotype is often very complex, because multiple level of biological abstraction connect the protein and individual level phenotypes. Here we present HPMPdb, a manually curated database containing human SAVs associated with the detailed description of the molecular phenotyp

SUBMITTER: Raimondi D 

PROVIDER: S-EPMC9166469 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature