Literature DB >> 23403236

Roadmap to determine the point mutations involved in cardiomyopathy disorder: a Bayesian approach.

Ambuj Kumar1, Vidya Rajendran, Rao Sethumadhavan, Rituraj Purohit.   

Abstract

Determining the deleterious non-synonymous single nucleotide polymorphisms (nsSNPs), that might be involved in inducing disease-associated phenomena, is now among the most important field of computational genomic research. The rapid evolution in sequencing technologies has now outranged the limit of available sequence databases and has out-fledged the amount of SNP data that are yet to be characterized. In this article we have performed a comprehensive analysis of deleterious nsSNPs in MyH7 gene associated with cardiomyopathy cases using a set of computational platforms. We implemented a set of computational SNP analysis platforms along with the Bayesian calculations in order to filter the most likely mutation that might be associated with cardiomyopathy associated disorders. The Bayesian calculation depicted 27 fold rises in the likelihood score for causing cardiomyopathy disorder when MyH7 gene mutations were compiled. Furthermore, we reported E466Q mutation in MyH7 motor domain that showed increase in the amyloid propensity of protein, as well as a significant level of pathogenicity was also observed. The prediction roadmap followed in this article has showed a notable range of accuracy and can be used for determining cardiomyopathy associated nsSNPs for other candidate genes.
Copyright © 2013 Elsevier B.V. All rights reserved.

Entities:  

Mesh:

Substances:

Year:  2013        PMID: 23403236     DOI: 10.1016/j.gene.2013.01.056

Source DB:  PubMed          Journal:  Gene        ISSN: 0378-1119            Impact factor:   3.688


  7 in total

1.  High-Risk Polymorphisms Associated with the Molecular Function of Human HMGCR Gene Infer the Inhibition of Cholesterol Biosynthesis.

Authors:  Keshob Chandra Das; Mohammad Uzzal Hossain; Md Moniruzzaman; Md Salimullah; Sharif Akhteruzzaman
Journal:  Biomed Res Int       Date:  2022-06-06       Impact factor: 3.246

2.  In silico comprehensive analysis of coding and non-coding SNPs in human mTOR protein.

Authors:  Tahirah Yasmin
Journal:  PLoS One       Date:  2022-07-05       Impact factor: 3.752

3.  In silico approach to explore the disruption in the molecular mechanism of human hyaluronidase 1 by mutant E268K that directs Natowicz syndrome.

Authors:  D Meshach Paul; R Rajasekaran
Journal:  Eur Biophys J       Date:  2016-07-16       Impact factor: 1.733

4.  In-silico screening of cancer associated mutation on PLK1 protein and its structural consequences.

Authors:  Balu Kamaraj; Vidya Rajendran; Rao Sethumadhavan; Rituraj Purohit
Journal:  J Mol Model       Date:  2013-11-23       Impact factor: 1.810

5.  In-silico phenotype prediction by normal mode variant analysis in TUBB4A-related disease.

Authors:  Oded Shor; Felix Benninger; Avi Fellner; Yael Goldberg; Dorit Lev; Lina Basel-Salmon
Journal:  Sci Rep       Date:  2022-01-07       Impact factor: 4.379

6.  A Novel Mutation of SMAD3 Identified in a Chinese Family with Aneurysms-Osteoarthritis Syndrome.

Authors:  Wenwen Zhang; Min Zhou; Cheng Liu; Chen Liu; Tong Qiao; Dian Huang; Feng Ran; Wei Wang; Changjian Liu; Zhao Liu
Journal:  Biomed Res Int       Date:  2015-06-29       Impact factor: 3.411

7.  Prediction of a highly deleterious mutation E17K in AKT-1 gene: An in silico approach.

Authors:  Imran Khan; Irfan A Ansari
Journal:  Biochem Biophys Rep       Date:  2017-04-21
  7 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.