Computational Saturation Mutagenesis Reveals Pathogenic and Structural Impacts of Missense Mutations in Adducin Proteins.

ABSTRACT: Background and objectives: Adducins are cytoskeletal proteins essential for membrane stability, actin-spectrin network organization, and cell signaling. Mutations in the genes ADD1, ADD2, and ADD3 have been linked to hypertension, neurodevelopmental disorders, and cancer. However, no comprehensive in silico saturation mutagenesis study has systematically evaluated the pathogenic potential and structural consequences of all possible missense mutations in adducins. This study aimed to identify high-risk variants and their potential impact on protein stability and function. Methods: We performed computational saturation mutagenesis for all possible single amino acid substitutions across the adducin proteins family. Pathogenicity predictions were conducted us

SUBMITTER: Melendez-Aranda L 

PROVIDER: S-EPMC12386066 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature