In silico analysis of Single Nucleotide Polymorphisms (SNPs) in Human HFE Gene coding region - Abstract
Background: HFE gene is a HLA class1-like molecule, expressed in the different cells and tissues, mutations on this gene reported to cause about 80-90% of Hereditary haemochromatosis (HHC) and it is increasing the risk of different diseases. In this study; we aimed to analysis the SNPs in HFE gene by using different computational methods.
Methodology: We obtained HFE gene nsSNPs from dbSNP/NCBI database, Deleterious nsSNPs predicted by different bioinformatics servers including; SIFT, polyphen-2, I-mutant and SNPs & GO servers. Protein structure analysis done by using Project hope and RaptorX tools then visualized by Chimera software and function, interaction and network of HFE gene analysis done by Gene MANIA program.
Results: SIFT and Polyphen-2 servers predicted 75 deleterious nsSNPs and nine polymorphisms from them predicted as highly damaging and disease associated.
Conclusion: In silico analysis of single nucleotide polymorphisms is better for understanding different genetic disorders, and give helpful information for future candidate studies.