Structure based inference of functional single nucleotide polymorphism and its role in TGFβ1 allied colorectal cancer (CRC)

Abstract

Motivation: Till date vast varieties of studies have given major attention to TGFβR1 and TGFβR2 receptors in colorectal cancer (CRC), however TGFβ1 remains to be poorly understood. It is still a major challenge to identify the functional SNPs in a CRC-related TGFβ1 gene. Method: In this study, total 136 mutations were retrieved for TGFβ1 out of which nonsynonymous 37 mutations were considered. Initially sequence and structure based tools were used for damage prediction. The mutations that were predicted to be damaging by majority of the tools were then considered for the structure dynamics study. Result: In this paper we targeted only one mutation type, i.e., L28F to evaluate its effect on disease. Structure conservation studies have been performed to infer the effect of the mutation at the region with respect to its conservation profile. The study depicts the changes occurring to the overall structure due to a single amino acid variation (i.e. L28F).