International Journal of Science and Research (IJSR)

International Journal of Science and Research (IJSR)
Call for Papers | Fully Refereed | Open Access | Double Blind Peer Reviewed

ISSN: 2319-7064

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Research Paper | Veterinary and Animal Science | India | Volume 12 Issue 5, May 2023

In silico Screening of Deleterious Missense Variants of Cattle ANPEP Gene Reveals the Impact on Protein Structure and Function

Ymberzal Koul

Abstract: Alanyl aminopeptidase or aminopeptidase N (ANPEP) gene codes for the digestive enzyme aminopeptidase that plays a role in the final digestion of peptides generated from hydrolysis of proteins by gastric and pancreatic proteases. The ANPEP gene is conserved across many species, thus implying its essentiality and natural selection. A mutation at a conserved sequence causes protein defunctionalisation and is usually not well tolerated. Hence, the present study was conducted to investigate the non - synonymous SNPs of cattle ANPEP gene by using several computational prediction tools. Out of 176 missense variants in ANPEP gene, retrieved from Ensembl database, 54 variants were found to be deleterious based on SIFT score. These variants were subject to further evaluation through PANTHER, PolyPhen2, PredictSNP, SNAP2 and PhD - SNP. Ultimately, out of 54 deleterious nsSNPs, 20 were confirmed as disease - causing through a consensus approach. The impact of mutation on protein stability, studied through I - Mutant 2.0, muPro and mCSM tools, revealed highly destabilizing effect of A411D, F218S, I864S, P79S, Y191S, Y195S variants. The effects of amino acid substitutions on native structure, analysed through Project HOPE server, confirmed that most of the deleterious variants of ANPEP gene are located in the metalloprotease region of the protein, which is highly conserved and essential for normal function and interaction between the domains. Six deleterious nsSNPs revealed from this study require a confirmatory analysis by wet lab studies in a wider population.

Keywords: ANPEP, mutation, in silico, SIFT, cattle, deleterious

Edition: Volume 12 Issue 5, May 2023,

Pages: 1734 - 1737

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