Research Article
VineetVaibhav, Chandan Kumar G
Abstract
Fibrodysplasia Ossificans Progressiva (FOP) is a genetic disorder of connective tissue. Damaging missense point mutations in ACVR1gene, which is accountable for FOP was examined by computational methods. Out of 19 variants of this gene obtained from NCBI; 3 variants namely R258S, G356D and R206H were found to bedeleterious. These variants were reported as probably damaging, deleterious and decreased DDG by PolyPhen 2.0, SIFT and I-mutant 2.0 respectively. The deleterious condition was further verified by usingPHD-SNP, PANTHER and SNPs&GO. Out of these 3 variants, only R206H was reported to be neutral by SNPs&GO. The results of computational analysis were alike to the wet lab result reported in research literatures.