Comprehensive characterization of pathogenic missense CTRP6 variants and their association with cancer.

ABSTRACT:

Background

Previous genome-wide association studies have linked three missense single nucleotide polymorphisms (SNPs) in C1q/TNF-related protein 6 (CTRP6) to diseases such as type 1 diabetes and autoimmune diseases. However, the potential association of newly identified missense CTRP6 variants with diseases, especially cancer, remains unclear.

Methods

We used several pathogenicity prediction algorithms to identify deleterious mutations within the highly conserved C1q domain of human CTRP6, following the retrieval of all SNPs from the Ensembl database. We systematically analyzed the effects of these mutations on the protein's stability, flexibility, structural conformation, compactness, stiffness, and overall functionality using various bioinformatics tools. Additionally, we

SUBMITTER: Mehboob MZ 

PROVIDER: S-EPMC11840981 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature