In-Silico Study of Neural Tube Defect in Relation to FOHL1 Gene

Barkha Singh Barkha Singh, Rashmi Rashmi, Sunil Kumar Rai, Sangeeta Rai, Royana Singh Royana Singh
2012 International Journal of Scientific Research  
Neural tube defect is a neurological disorder occurs due to non closure of neural tube. To determine the role of FOLH1 gene in relation to Neural tube defect analysis of SNPs (single nucleotide polymorphism) associated with this gene was done. Alteration in genetic variants can lead to change in function of the gene products. A total of 1778 SNPs are investigated for FOLH1. Bioinformatics tools were used to determine SNP (rs61886492). The amino acid change for rs61886492 is from histidine to
more » ... osine, i.e. from a basic amino acid having imidazole ring to an aromatic amino acid with polar charged group. Due to change in side chains of the amino acid residues brought about by the above SNP, affect the structure and function of the protein. The study helps in determining new insight for the genetic analysis of FOLH1 gene with neural tube defect. Summary: In-silico structural and functional changes associated with FOLH1 gene due to polymorphism at H475Y in neural tube defect has been studied. Bioinformatics tools were used to determine SNP (rs61886492). The amino acid change for rs61886492 is from histidine to tyrosine, i.e. from a basic amino acid having imidazole ring to an aromatic amino acid with polar charged group. Due to change in side chains of the amino acid residues brought about by the above SNP, affect the structure and function of the protein.
doi:10.15373/22778179/apr2014/130 fatcat:qbfeqavm2ngt3d2swmjek35ebq