Comprehensive Computational Analysis Revealed Seven Novel Mutations in Human Insulin gene (original) (raw)

Background: Insulin gene mapped on chromosome 11p15.5 consists of 3 exons, which translated to 51 residues of small globular protein secreted from the secretory granules in β-cells of the pancreatic gland. In this study, we used various computational approaches to identify nsSNPs, which probably be deleterious to the structure and/or function of insulin protein that might be associated with different disease pathophysiology. Methods: The data on human insulin gene retrieved from dbSNP/NCBI. Three functional analysis tools SIFT, Polyphen-2, Provean used to predict whether the effect of retrieved SNPs on the biological function of Insulin based on sequence homology, position-specific independent count scores and the impact of amino acid substitution on protein 3D structure. Then the shortlisted SNPs tested by three disease-associated SNPs predicting tools; Predictor of human Deleterious Single Nucleotide Polymorphisms, Pathogenic mutation prediction and SNPS&GO. Then the disease-causi...