Computational Profiling of Deleterious Non-Synonymous SNP’s in HFE

  1. S. Sarath Raj,
  2. M. Ranjith ,
  3. A. Sai Ramesh*

Authors Affiliation(s)

  • Department of Biotechnology, SreeSastha Institute of Engineering & Technology, Chennai, INDIA

Can J Biotech, Volume 1, Special Issue-Supplement, Page 295, DOI:


Liver cirrhosis describes a condition where scar tissue gradually replaces healthy cells in liver. The main causes are sustained, excessive alcohol consumption, viral hepatitis B and C, and fatty liver disease – however, there are other possible causes. Hemochromatosis is most common form of iron overload disease. Three types of hemochromatosis are primary hemochromatosis, also called hereditary hemochromatosis; secondary hemochromatosis; and neonatal hemochromatosis. The HFE gene helps regulate the amount of iron absorbed from food and inherited genetic defects or mutation in HFE [C282Y] cause primary hemochromatosis. Computational approach is sought to determine other similar mutations in this gene. In-silico tools such as SIFT, Polyphen 2.0, and PROVEAN were employed to determine the various deleterious ns-SNPs of HFE that may influence cystic fibrosis.