Ontology highlight
ABSTRACT:
SUBMITTER: Kumar CV
PROVIDER: S-EPMC4220619 | biostudies-literature | 2014
REPOSITORIES: biostudies-literature
Kumar Chundi Vinay CV Swetha Rayapadi G RG Anbarasu Anand A Ramaiah Sudha S
Advances in bioinformatics 20141020
The T118M mutation in PMP22 gene is associated with Charcot Marie Tooth, type 1A (CMT1A). CMT1A is a form of Charcot-Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system. Mutations in CMT related disorder are seen to increase the stability of the protein resulting in the diseased state. We performed SNP analysis for all the nsSNPs of PMP22 protein and carried out molecular dynamics simulation for T118M mutation to compare the stability difference between the w ...[more]