In Silico Analysis of Effect of Non-synonymous SNPs associated with Permanent Neonatal Diabetes Mellitus on Stability and Structure of Human Insulin-Reference-Cited by-同舟云学术

In Silico Analysis of Effect of Non-synonymous SNPs associated with Permanent Neonatal Diabetes Mellitus on Stability and Structure of Human Insulin

Published:2020-09-02 Issue: Volume: Page:
ISSN:
Container-title:
language:
Short-container-title:

Author:

Tabassum Nishat

Abstract

AbstractMotivationProteins are the building-blocks of life. However with the deluge of data on protein sequences and their association with diseases, it is imperative to use computational tools to aid experimental analysis. Determination of the impact of disease-causing SNPs on protein’s structure is crucial in discovering how a disease affects the functions on a fundamental level and thereafter, determining potential drug targets.ResultsSNPs associated with the genetic disease permanent neonatal diabetus mellitus (PNDM) were studied to determine their impact on human insulin. Out of 16 missense variants, eight were predicted to be deleterious. 6 of the SNPs resulted in high structural differences (RMSD > 0.9, H bonds > 35). Stability changes were also determined.

Publisher

Cold Spring Harbor Laboratory

Reference11 articles.

1. PredictSNP: Robust and Accurate Consensus Classifier for Prediction of Disease-Related Mutations;PLOS Computational Biology,2014

2. Prediction of protein stability changes for single-site mutations using support vector machines;Proteins: Structure, Function, and Bioinformatics,2006

3. Claverie, J.-M. and Notredame, C. (2007). Bioinformatics for dummies. –For dummies. Wiley Pub, Hoboken, N.J, 2nd ed edition. OCLC: ocm79917671.

4. De León, D. D. and Stanley, C. A. (1993). Permanent Neonatal Diabetes Mellitus. In M. P. Adam , H. H. Ardinger , R. A. Pagon , S. E. Wallace , L. J. Bean , K. Stephens , and A. Amemiya , editors, GeneReviews®. University of Washington, Seattle, Seattle (WA).

5. Elkhattabi, L. et al. (2019). In Silico Analysis of Coding/Noncoding SNPs of Human RETN Gene and Characterization of Their Impact on Resistin Stability and Structure.

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. In-silico analysis of non-synonymous SNPs of human LDLR gene and their impact on familial hypercholesterolemia;Gene Reports;2021-06