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

Published: Sept. 2, 2020, 9:01 a.m.

Link to bioRxiv paper: http://biorxiv.org/cgi/content/short/2020.09.01.278002v1?rss=1 Authors: Tabassum, N. Abstract: Proteins 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. SNPs 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. Copy rights belong to original authors. Visit the link for more info