Research Paper (postgraduate) from the year 2016 in the subject Medicine - Human Genetics, , language: English, abstract: Congenital heart disease (CHD) is an abnormality in the structure and function of the heart and great vessels caused by embryonic development disorders, it is highly complex and is not fully understood yet.
This study performs a computational analysis of the nsSNPs in the GATA4 gene, to identify the possible mutations and propose a modeled structure for the mutant protein that potentially affects its function.
The nsSNPs were analyzed using 5 prediction tools: SIFT, Polyphen-2, I-Mutant 3.0, PhD-SNP and Project Hope. The SNPs on 3 UTR and 5 UTR regions were analyzed using PolymRTS and SNP Function Prediction softwares, respectively. Twenty nine nsSNPs were found to be deleterious and damaging by SIFT and 22 nsSNPs by PolyPhen server; 22 nsSNPs were found to be common in both SIFT and PolyPhen server. Also, 6 nsSNPs were observed to be highly deleterious and damaging as per SIFT and PolyPhen server. Moreover, the PolymiRTS results showed 34 SNPs in the 3 UTR region and only one SNP in 5 UTR by SNP Function Prediction to be functionally significant.
Hence, we hope our results will provide useful information that needed to help researchers to do further study in heart disease in children especially in our country
