Prioritization of disease prone exons in INPP5E gene,associated with Joubert syndrome,by in silico analysis of non-synonymous SNPs

In the present computational study,various softwares have been employed for functional and structural analysis of non-synonymous single nucleotide polymorphism (nssnp) in the protein coding exons of inpp5e (mim# 613037) gene to determine its deleteriousness. mutation in this gene causes joubert syndrome (mim# 213300). the overall bioinformatics analysis predicted eight most deleterious nssnps in the four candidate exons i.e. 2,3,4,and 7. out of these eight damaging nssnps three each are present in 2nd and 4th exons,while 3rd and 7th exons contain one damaging nssnp each. this study will assist the molecular geneticists to selectively sequence the candidate disease associated exons that will contain the deleterious nssnps,inspite of screening the whole gene. copyright 2015 zoological society of pakistan.