Pathogenicity patterns in cytochrome P450 family.

ABSTRACT:

Motivation

Cytochrome P450 proteins play a crucial role in human metabolism, ranging from hormone production to drug metabolism. While multiple commonly known variants have known effects on the individual cytochrome P450 protein performance, the pathogenicity information is usually experimentally limited to only a few mutations. Current pathogenicity prediction software enables the extension of the scope to virtually mutate all amino acids with all possible substitutional mutations. In this work, we do a comprehensive exploration that unveils pathogenicity patterns in the human cytochrome P450 family. Pathogenicity analysis was conducted across proteins using SIFT, AlphaMissense, and PrimateAI-3D algorithms.

Results

Our findings indicate a progressive increase in pathogenici

SUBMITTER: Spackova A 

PROVIDER: S-EPMC12534787 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature