The cientificWorldJOURNAL Research Article Computational Methods to Work as First-Pass Filter in Deleterious SNP Analysis of Alkaptonuria

Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. A major challenge in the analysis of human genetic variation is to distinguish functional from nonfunctional SNPs. Discovering these functional SNPs is one of themain goals of modern genetics and genomics studies. There is a need to effectively and efficiently identify functionally important nsSNPs which may be deleterious or disease causing and to identify their molecular effects. The prediction of phenotype of nsSNPs by computational analysis may provide a good way to explore the function of nsSNPs and its relationship with susceptibility to disease. In this context, we surveyed and compared variation databases along with in silico prediction programs to assess the effects of deleterious functional variants on protein functions. In other respects, we attempted these methods to work as first-pass filter to identify the deleterious substitutions worth pursuing for further experimental research. In this analysis, we used the existing computationalmethods to explore the mutation-structure-function relationship inHGD gene causing alkaptonuria. 1