COMPUTATIONAL ANALYSIS OF FUNCTIONAL SINGLE NUCLEOTIDE POLYMORPHISM ASSOCIATED WITH BCL2 GENE
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Author:
ASIM KHURSHID
Citable URI :
https://vspace.vu.edu.pk/detail.aspx?id=224
Publisher :
Virtual University
Date Issued:
7/23/2019 12:00:00 AM
Abstract
Most persistent genomic variations are marked as single nucleotide polymorphisms called SNPs, and these are strongly linked to certain disease. Some of these SNPs are known as missense SNPs (nsSNPs) which are residing in the translation region of gene causing an effect on the amino acid composition. Resultantly, these have a deep effect on protein structural and functional aspects. In human the SNPs are very crucial type of variations which are very common and engage in a vital role in the human genetics pheno-type variations. These SNPs are the genetic basis of complex diseases in human. In human, the role of certain gene like B Cell Lymphoma 2 (BCL2) has got special attention because it’s over expression is resulting in certain type of lymphocytes cancer, because this gene encodes the outer mitochondrial membrane and blocks the apoptotic cell death in lymphocytes, resulting the formation of follicular lymphoma a type of cancer. In this research the role of Functional SNPs is studied by applying different computational methods to narrow down the mis-sense impact of deleterious SNPs. In This study 137 nsSNPs in BCL2 gene were investigated through computational techniques like SIFT, Polyphen2, I-Mutant 2.0 along with ConSurf web server and different nsSNPS were having common results studied for potential impact on the functioning and structural variations of BCL2 protein. Furthermore, Micro Dynamics Simulation analysis of the structure lead to the confirmation of effect of nsSNPs on the consistency and secondary property of BCL2 Protein. The tools like UTRScan (UTRdb), MirSNP, PolymiRTS and miRNASNP predicted to show the pattern changes in UTR-SNP. The recording of missense SNPs is very much beneficial for reduction of the mutations in BCL2 gene in genetic association studies to understand the function and structure related aspects of BCL2 Protein.
URI :
https://vspace.vu.edu.pk/details.aspx?id=224
Citation:
KHURSHID, A(2018), COMPUTATIONAL ANALYSIS OF FUNCTIONAL SINGLE NUCLEOTIDE POLYMORPHISM ASSOCIATED WITH BCL2 GENE, Virtual University of Pakistan (Lahore , Pakistan).
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Final Version
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