Document Detail


Analysis of non-synonymous single-nucleotide polymorphisms and population variability of PLD2 gene associated with hypertension.
MedLine Citation:
PMID:  23649737     Owner:  NLM     Status:  In-Data-Review    
Abstract/OtherAbstract:
We have determined the non-synonymous Single-Nucleotide Polymorphisms (nsSNPs) of PLD2 gene and its variations in different populations to understand its role in hypertension. Out of 350 SNPs, six are found to be non-synonymous, of which two showed significant damaging effect and SNP variability with large differences among the Minor Allele Frequency (MAF) observed in various populations. The amino acid change found for rs2286672 is from arginine to cysteine, i.e., from largest amino acid containing guanidino group to a small amino acid containing sulfhydryl group, and for rs3764897, it is from glycine to serine, i.e., from a hydrophobic amino acid to a hydrophilic amino acid. Hence, owing to the complete change in side chains and polarity of the amino acid residues brought about by these SNPs, the structure of the protein might be altered and hence the function might be affected, leading to dysregulation of blood pressure.
Authors:
Arpita Kundu; Parvathy Ramakrishnan; Ambika Rajendran; Nivedita V Dharwar; Anand Anbarasu
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  International journal of bioinformatics research and applications     Volume:  9     ISSN:  1744-5485     ISO Abbreviation:  Int J Bioinform Res Appl     Publication Date:  2013  
Date Detail:
Created Date:  2013-05-07     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101253758     Medline TA:  Int J Bioinform Res Appl     Country:  Switzerland    
Other Details:
Languages:  eng     Pagination:  227-41     Citation Subset:  IM    
Affiliation:
Bioinformatics Division, School of Biosciences and Technology, VIT University, Vellore 632014, Tamil Nadu, India.
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