ABSTRACT:
Though gene are already known to be responsible for ATS, but the knowledge of missense mutation that disease gene have still to be under covered. The present study has focused aims to address this issue particularly in KCNJ2 (Potassium Inwardly-Rectifying Channel, Subfamily J, Member 2) gene aid of computational approach. Initially 64 missense mutation of KCNJ2 gene retrieved from dbSNP database. The structural and functional impact of these mutations were studied by different genomic algorithms such as SIFT, PolyPhen2.0, SNPs and GO,PANTHER, PhD-SNP, I-Mutant 2.0, MUpro, iStable, Align GVGD, mCSM, nsSNP analyzer programs, respectively. Subsequently, molecular docking study was also employed to understand the effect of these mutations in the function of that protein. These data suggest that 5 mutations namely V295A, R312C, R260P, C154F and D71V were found to be more deleterious mutation in KCNJ2 gene. We sincerely hope that the results could be of immense importance in understanding the genetic basis of Anderson-Tawil syndrome.