Thirty five novel nsSNPs may effect onADAMTS13protein leading to Thrombotic thrombocytopenic purpura (TTP) using bioinformatics approach

Abstract

Background: Genetic polymorphisms in the ADAMTS13 gene are associated with thrombotic thrombocytopenic purpura or TTP, a life-threatening microangiopathic disorder. This study aims to predict the possible pathogenic SNPs of this gene and their impact on the protein structure and function using insilico methods. Methods: SNPs retrieved from the NCBI database were analyzed using several bioinformatics tools. The different algorithms applied collectively to predictthe effect of single nucleotide substitution on both structure and function of the ADAMTS13 protein.Results: Fifty one mutations were found to be highly damaging to the structure and function of the protein. Of those, thirty five were novel nsSNPs not previously reported in the literature. Conclusion: According to our analysis we found thirty five nsSNPs effects on ADAMTS13protein leading to thrombotic thrombocytopenic purpura using computational approach. Bioinformatics tools are vital in prediction analysis, making use of increasingly voluminous biomedical data thereby providing markers for screening or for genetic mapping studies. Keywords: Thrombotic thrombocytopenic purpura (TTP), A Disintegrin andMetalloproteinase with Thrombospondin Motifs 13 (ADAMTS13), microangiopathic disorder, Bioinformatics, single nucleotide polymorphisms (SNPs), computational, insilico.