Effect of structural changes in proteins derived from gata4 nonsynonymous single nucleotide polymorphisms in congenital heart disease

Manjegowda, D. S. and Karunakar, P. and Ramachandra, N. B. (2015) Effect of structural changes in proteins derived from gata4 nonsynonymous single nucleotide polymorphisms in congenital heart disease. Indian Journal of Pharmaceutical Sciences, 77 (6). pp. 735-741. ISSN 0250-474X

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Abstract

Congenital heart disease is the most common type of birth defect. The single nucleotide polymorphism in GATA4 is associated with various congenital heart disease phenotypes. In the present study, we analysed the nonsynonymous single nucleotide polymorphism of GATA4, which are involved in congenital heart disease by predicting the changes in protein structures. Total of 49 nonsynonymous single nucleotide polymorphisms of GATA4 was screened from congenital heart disease patients of Mysore and also globally reported nonsynonymous single nucleotide polymorphisms. To understand the role of nonsynonymous single nucleotide polymorphisms, we mutated the sequence and translated into amino acids. Further the mutated protein secondary structure is predicted and tertiary structure is predicted using homology modeling. The quantitative evaluation of protein structure quality was verified with Volume Area Dihedral Angle Reporter server. Results revealed the secondary, tertiary structural changes along with changes in free energy of folding, volume and accessible surface area. Thus, the structural changes in the mutated proteins impaired the normal function of GATA4.

Item Type: Article
Uncontrolled Keywords: Congenital heart disease; single nucleotide polymorphism; GATA4; homology modeling; free energy folding
Subjects: B Life Science > Zoology
Divisions: Department of > Zoology
Depositing User: Users 19 not found.
Date Deposited: 29 May 2019 11:21
Last Modified: 17 Sep 2019 10:28
URI: http://eprints.uni-mysore.ac.in/id/eprint/648

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