NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.
Dean L, McEntyre J, editors. Coffee Break: Tutorials for NCBI Tools [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1999-.
![Image cb25_sml.jpg](/books/NBK2311/bin/cb25_sml.jpg)
Mutations of the HFE gene are commonly at fault. In this tutorial, we examine the link between SNPs of the HFE gene and the development of disease. In the course of deciphering whether a SNP is significant, we look to see whether the SNP causes an amino acid change, the nature of this change (e.g., a switch of cysteine to another amino acid may disrupt a disulfide bond), and whether this change takes place in a conserved domain. We also take a look at the amino acid change on a three-dimensional representation of the HFE protein structure.
So... can a switch of a single nucleotide be responsible for a mutant HFE protein that allows iron regulation to go astray?
Search the SNPs database for HFE
Do single nucleotide polymorphisms in the HFE gene have functional consequences?
For this tutorial, you will need to have flash installed on your computer.