Computational study of ADD1 gene polymorphism associated with hypertension.
We have determined the non-synonymous single-nucleotide polymorphisms (nsSNPs) of α adducin 1 (ADD1) gene and its variations in different populations to understand its role in hypertension. Out of 1,113 SNPs, 9 are found to be non-synonymous, of which 7 showed significant damaging effect and one of them showed SNP variability with large differences among the minor allele frequency observed in various populations. The amino acid change found for rs4961 is from glycine to tryptophan, i.e., from an alkyl amino acid to an aromatic amino acid. This residual change is observed in the coiled region of the protein and is also predicted to be disordered by computational algorithm. Protein disorder plays an important role in structural and functional genomics. Hence, because of the complete change in side chains of the amino acid residues occurring in the coiled and disordered region of the protein, the structure of the protein might be altered and the function might be affected, leading to the risk for hypertension.
Medical & Biological Computing Laboratory, Bioinformatics Division, School of Biosciences and Technology, VIT University, Vellore 632014, Tamil Nadu, India.
Arpita
A
Kundu
Anbarasu
A
Anand
D002148:Calmodulin-Binding Proteins / Q000737:chemistry / Q000235:genetics*; D019295:Computational Biology; D006801:Humans; D006973:Hypertension / Q000235:genetics*; D008958:Models, Molecular; D020641:Polymorphism, Single Nucleotide; D055550:Protein Stability; D017433:Protein Structure, Secondary; D000099291:Adducins
D002148:Calmodulin-Binding Proteins; D000099291:Adducins