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Magesh R, George Priya Doss C. Computational pipeline to identify and characterize functional mutations in ornithine transcarbamylase deficiency. 3 Biotech. 2014;4(6):621-634doi: 10.1007/s13205-014-0216-y.
Magesh, R., & George Priya Doss, C. (2014). Computational pipeline to identify and characterize functional mutations in ornithine transcarbamylase deficiency. 3 Biotech, 4(6), 621-634. https://doi.org/10.1007/s13205-014-0216-y
Magesh, R, and George Priya Doss, C. "Computational pipeline to identify and characterize functional mutations in ornithine transcarbamylase deficiency." 3 Biotech vol. 4,6 (2014): 621-634. doi: https://doi.org/10.1007/s13205-014-0216-y
Magesh R, George Priya Doss C. Computational pipeline to identify and characterize functional mutations in ornithine transcarbamylase deficiency. 3 Biotech. 2014 Dec;4(6):621-634. doi: 10.1007/s13205-014-0216-y. Epub 2014 Apr 24. PMID: 28324312; PMCID: PMC4235886.
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3 Biotech. 2014 Dec;4(6):621-634. doi: 10.1007/s13205-014-0216-y. Epub 2014 Apr 24.

Computational pipeline to identify and characterize functional mutations in ornithine transcarbamylase deficiency.

3 Biotech

R Magesh, C George Priya Doss

Affiliations

  1. Department of Biotechnology, Faculty of Biomedical Sciences, Technology and Research, Sri Ramachandra University, Chennai, 600116, India.
  2. Medical Biotechnology Division, School of Biosciences and Technology, VIT University, Vellore, India. [email protected].

PMID: 28324312 PMCID: PMC4235886 DOI: 10.1007/s13205-014-0216-y

Abstract

Ornithine transcarbamylase (OTC) (E.C. 2.1.3.3) is one of the enzymes in the urea cycle, which involves in a sequence of reactions in the liver cells. During protein assimilation in our body surplus nitrogen is made, this open nitrogen is altered into urea and expelled out of the body by kidneys, in this cycle OTC helps in the conversion of free toxic nitrogen into urea. Ornithine transcarbamylase deficiency (OTCD: OMIM#311250) is triggered by mutation in this OTC gene. To date more than 200 mutations have been noted. Mutation in OTC gene indicates alteration in enzyme production, which upsets the ability to carry out the chemical reaction. The computational analysis was initiated to identify the deleterious nsSNPs in OTC gene in causing OTCD using five different computational tools such as SIFT, PolyPhen 2, I-Mutant 3, SNPs&Go, and PhD-SNP. Studies on the molecular basis of OTC gene and OTCD have been done partially till date. Hence, in silico categorization of functional SNPs in OTC gene can provide valuable insight in near future in the diagnosis and treatment of OTCD.

Keywords: I-Mutant 3; OTC; OTCD; PhD-SNP; PolyPhen 2; SIFT; SNPs&Go

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