Identification of deleterious mutation in CHEK2 gene an insilico approach

Single-nucleotide polymorphisms (SNPs) play a major role in the understanding of the genetic basis of many complex human diseases. The current study reports. of the total of 682 SNPs in the CHK2 gene. 10 non-svnonvmous SNPs (nsSNPs) were identified as functionally significant. SIFT, PolyPhen and I -Mutant programs were used to analyze the nsSNPs. Out of total 10 nsSNPs, 8 were found to be deleterious by SIFT and 5 were damaging as per the PolyPhen program. The complete analysis of these mutations has been the focus of the paper. The structural stability of the mutated structures was studied using I- Mutant program. From a comparison of the stabilizing residues of the native and mutant proteins. we propose that the nsSN P rs121908706. rs121908705, rs121908701, rs112032633and rs111292981) could be important candidates for the various cancers caused by the mutation in CHEK2 gene.