Paper Details

Identifying and predicting the impact of functional single nucleotide polymorphisms (SNPs) in human CAV-3 gene

Waseem El-Huneidi

DOI: https://dx.doi.org/10.12692/ijb/4.8.222-230

Int. J. Biosci. 4(8), 222-230. April, 2014. (PDF)

Abstract:

Genetic mutations, such as Single nucleotide polymorphisms (SNPs) are known to be the most reported type of genetic variations in individuals and thought to have a crucial impact on the understanding of many genetic related diseases. One of the major challenges is to find the deleterious SNPs in disease-associated genes. In the current study, computational methods were used to analyze the SNPs which may effect the expression and function of CAV 3 gene. Of the total 377 SNPs, 288(76.8%) were found to be non-coding SNPs, while 53 (14.1%) were non synonymous (ns) SNPs and 4(1.1%) were in the mRNA UTRs. Forty nine nsSNPs encoding missense mutation were tested for the parable effect on protein structure and functions using SIFT, I-Mutant 2, PolyPhen 2 and PANTHER soft wares. Moreover, one nsSNP (R27Q) was further analyzed using HOPE project, and this mutation predicted to substantially affect the structure along with the function of caveolin 3 protein.