A systematic in-silico functional and structural analysis reveals deleterious missense nsSNPs in the human <i>CSF1R</i> gene.

ABSTRACT: Colony Stimulating Factor-1 Receptor (CSF1R) is a tyrosine kinase transmembrane receptor that plays a vital role in innate immunity and neurogenesis and controls the differentiation and maintenance of most tissue-resident macrophages. CSF1R mutations have been linked with many neurodegenerative diseases. In this work, we aim to identify the functional and structural impact of deleterious non-synonymous single nucleotide polymorphisms (nsSNPs) mutations on CSF1R, which could help understand the consequences of these mutational changes. A consensus-based prediction approach was used to screen the missense SNPs using six in-silico tools: SIFT, PROVEAN, PMut, MutPred, MISSENSE 3D, and FATHMM. SNPs found to be deleterious by more than five out of six tools were subjected to further analy

SUBMITTER: Malhotra P 

PROVIDER: S-EPMC12426959 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature