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Analysis of Single Nucleotide Polymorphisms in Human Alanyl-tRNA Synthetase (AARS) Gene: an in Silico Approach

DOI : https://doi.org/10.36349/easjbg.2020.v02i03.004
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Charcot-Marie-Tooth (CMT) disease is an autosomal recessive disease that manifests at the age 15 years or late in life. It is characterized by muscle weakness and atrophy of the peripheries, and damages to the peripheral nervous system. It results from mutations in the AARS gene which causes neuro degeneration. The aim of this study was to determine the effect of deleterious SNPs (Single Nucleotide Polymorphisms) in the coding region of the Human AARS gene on protein structure and function using computational analysis. The nonsynonymous SNPs in the gene were downloaded from the dbSNP database in 2019.These SNPs were analyzed using various software including: Gene MANIA which provides information about the proteins interaction, Sorting Tolerant From Intolerant (SIFT),Polymorphism PhenotypingV2(Polyphen-2),Protein Variation Effect Analyzer v1.1 (PROVEAN), SNPs & GO, and Phd-SNP (Predictor of Human Deleterious Single Nucleotide Polymorphism)to sort out deleterious form non-deleterious SNPs. Then the effect of SNPs on the stability of the alanyl-aminoacyl tRNA synthetase enzyme were predicted using I-Mutant3.0 and Mupro, and lastly project HOPE was used to predict the effect of SNPs on the structure of the enzyme. The total number of the SNPs obtained was 11849, only 15 SNPs were found to be disease related using various software used. Using the stability software, 14 SNPs were found to decrease the protein stability. A total of 13 SNPs were predicted to be disease related and have not been reported before.

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Dr. Afroza Begum

Lecturer, Dept. of Pharmacology and Therapeutics, Shaheed Monsur Ali Medical College & Hospital, Uttara, Dhaka-1230, Bangladesh

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