Integrating Artificial Intelligence and Bioinformatics Methods to Identify Disruptive STAT1 Variants Impacting Protein Stability and Function.

ABSTRACT: Background: The Signal Transducer and Activator of Transcription 1 (STAT1) gene is an essential component of the JAK-STAT signaling pathway. This pathway plays a pivotal role in the regulation of different cellular processes, including immune responses, cell growth, and apoptosis. Mutations in the STAT1 gene contribute to a variety of immune system dysfunctions. Objectives: We aim to identify disease-susceptible single-nucleotide polymorphisms (SNPs) in STAT1 gene and predict structural changes associated with the mutations that disrupt normal protein-protein interactions using different computational algorithms. Methods: Several in silico tools, such as SIFT, Polyphen v2, PROVEAN, SNAP2, PhD-SNP, SNPs&GO, Pmut, and PANTHER, were used to determine

SUBMITTER: Kamal E 

PROVIDER: S-EPMC11942549 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature