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Dean L, McEntyre J, editors. Coffee Break: Tutorials for NCBI Tools [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1999-.

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Coffee Break: Tutorials for NCBI Tools [Internet].

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Variations on a gene

investigating the genetic basis of iron overload

, MD.

Created: .

Image cb25_sml.jpgHereditary hemochromatosis is a common disease that results in the accumulation of iron in the body. Approximately 5 per 1000 Americans inherit this disorder, but symptoms may never appear, leaving many people undiagnosed.

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?

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