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.

Talk to us

Join us for a 30 min session where you can share your feedback and ask us any queries you have

Schedule a call

Disclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.