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Online Journal of Bioinformatics

Established 1995

ISSN  1443-2250


Volume 24 (1):33-44, 2023.

Homology protein model from GATA4 single nucleotide polymorphisms in congenital heart disease.


Dinesh SM1, Prashantha Karunakar2, Nallur B Ramachandra1.


1Genomics Laboratory, Department of Studies in Zoology, University of Mysore, Mysore, Karnataka, 2Department of Biotechnology and Bioinformatics, Kuvempu University, Shankarghatta, Karnataka, India.




Dinesh SM, Karunakar P, Ramachandra NB., Homology protein model from GATA4 single nucleotide polymorphisms in congenital heart disease, 24 (1):33-44, 2023. Congenital heart disease (CHD) is a common birth defect being a leading cause of death in 1st year. However, single nucleotide polymorphisms (SNP) in GATA4 regulates heart growth associated with CHD phenotypes. We discriminated synonymous SNP in coding by editing 48 GATA4 from non-synonymous SNP translated to amino acid polymorphisms to change amino acid 2D protein structure. This allowed to create 3D structure of mutated proteins by analysis of side chain amino acids.


Key words: Congenital heart disease; Single nucleotide polymorphisms; GATA4; 3D structure.