A novel computational and structural analysis of nsSNPs in CFTR gene.

Genomic Medicine
C George Priya DossR Sethumadhavan

Abstract

Single Nucleotide Polymorphisms (SNPs) are being intensively studied to understand the biological basis of complex traits and diseases. The Genetics of human phenotype variation could be understood by knowing the functions of SNPs. In this study using computational methods, we analyzed the genetic variations that can alter the expression and function of the CFTR gene responsible candidate for causing cystic fibrosis. We applied an evolutionary perspective to screen the SNPs using a sequence homology-based SIFT tool, which suggested that 17 nsSNPs (44%) were found to be deleterious. The structure-based approach PolyPhen server suggested that 26 nsSNPS (66%) may disrupt protein function and structure. The PupaSuite tool predicted the phenotypic effect of SNPs on the structure and function of the affected protein. Structure analysis was carried out with the major mutation that occurred in the native protein coded by CFTR gene, and which is at amino acid position F508C for nsSNP with id (rs1800093). The amino acid residues in the native and mutant modeled protein were further analyzed for solvent accessibility, secondary structure and stabilizing residues to check the stability of the proteins. The SNPs were further subjected to iH...Continue Reading

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Citations

Dec 15, 2010·Interdisciplinary Sciences, Computational Life Sciences·C George Priya DossRao Sethumadhavan
Jul 31, 2012·Interdisciplinary Sciences, Computational Life Sciences·C George Priya DossHimani Tanwar
Jan 26, 2013·Academic Medicine : Journal of the Association of American Medical Colleges·Kenneth Cornetta, Candy Gunther Brown
Apr 25, 2012·Neurology Research International·Tariq Ahmad MasoodiAdel A Alhamdan
Jul 14, 2010·Journal of Biomedicine & Biotechnology·S A de Alencar, Julio C D Lopes
Jul 1, 2017·Interdisciplinary Sciences, Computational Life Sciences·Vemulawada ChakrapaniHirak K Barman

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