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Gene nomenclature of different types of spinocerebellar ataxia (SCA) and the in silico study of non-synonymous single-nucleotide polymorphisms (NSSNP) of atxn1 gene associated with spinocerebellar ataxia type 1 (SCA1)
M. Madhumathi,
Published in
2013
Volume: 5
   
Issue: SUPPL 3
Pages: 948 - 953
Abstract
Objective: The objective is to distinguish the gene nomenclature of 36 types of spinocerebellar ataxia (SCA) and to find the non-synonymous single-nucleotide polymorphism (nsSNP) which is main target for spinocerebellar ataxia type 1 (SCA1). Method: The gene nomenclatures of spinocerebellar ataxias (SCAs) were collected from Entrez gene on NCBI website. SCA1 gene single nucleotide polymorphisms (SNPs) are retrieved from single nucleotide polymorphism database (dbSNP) and the insilico study was done for SCA1 by using SIFT and polyphen server. Results: Gene information's like gene ID, gene name, gene full name, other aliases, other designations, location of gene, gene length, gene type and protein length are collected and briefly tabulated in this study. Among 24,000 SNP, 13 are nsSNP and among these 13 nsSNPs 5 were found to be deleterious and it was found by SIFT program. Among the same 13 nsSNPs 7 were found to be damaged and it was done by polyphen server. 4 nsSNPs (rs116599639, rs2175378, rs75068405 and rs62387706) are found to be common in both SIFT and polyphen. Conclusion: The nomenclature of genes and its information's are briefly explained and it is used for further research. Among 24,000 SNPs 4 nsSNPs (rs116599639, rs2175378, rs75068405 and rs62387706) are found to be common in both SIFT and polyphen server. So the conclusion is that, the 4 nsSNPs are the main target mutation for SCA type 1.
About the journal
JournalInternational Journal of Pharmacy and Pharmaceutical Sciences
ISSN09751491