In Silico Analysis and Modeling of Deleterious Single Nucleotide Polymorphism (SNPs) in Human GATA4 Gene
eBook - PDF

In Silico Analysis and Modeling of Deleterious Single Nucleotide Polymorphism (SNPs) in Human GATA4 Gene

  1. 46 pages
  2. English
  3. PDF
  4. Available on iOS & Android
eBook - PDF

In Silico Analysis and Modeling of Deleterious Single Nucleotide Polymorphism (SNPs) in Human GATA4 Gene

About this book

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

Table of contents

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    Information

    Publisher
    GRIN Verlag
    Edition
    1
    Year
    2016
    Topic
    Medicine
    Subtopic
    Genetics in Medicine
    eBook ISBN
    9783668335202

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    Yes, you can access In Silico Analysis and Modeling of Deleterious Single Nucleotide Polymorphism (SNPs) in Human GATA4 Gene by Marwa Osman,et al. in PDF and/or ePUB format, as well as other popular books in Medicine & Genetics in Medicine. We have over 1.5 million books available in our catalogue for you to explore.