Identified hemochromatosis mutations and their origin
| Family . | Protein . | Exon . | Nucleotide change . | Amino acid change . | Origin . |
|---|---|---|---|---|---|
| A | Hemojuvelin | 3 | 239G>A | C80Y | Bangladesh |
| B, C | Hemojuvelin | 3 | 295G>A | G99R | Pakistan |
| D | Hemojuvelin | 3 | 575C>T | P192L | Pakistan |
| E | Hemojuvelin | 3 | 581T>C | L194P | Pakistan |
| F | Hemojuvelin | 4 | 1026delT | A343PfsX23 | Sri Lanka |
| G | Hepcidin | 2 | 126-127delAG | R42Sfs | Pakistan |
| H | Ferroportin | 7 | 977G>A | C326Y | Thailand |
| Family . | Protein . | Exon . | Nucleotide change . | Amino acid change . | Origin . |
|---|---|---|---|---|---|
| A | Hemojuvelin | 3 | 239G>A | C80Y | Bangladesh |
| B, C | Hemojuvelin | 3 | 295G>A | G99R | Pakistan |
| D | Hemojuvelin | 3 | 575C>T | P192L | Pakistan |
| E | Hemojuvelin | 3 | 581T>C | L194P | Pakistan |
| F | Hemojuvelin | 4 | 1026delT | A343PfsX23 | Sri Lanka |
| G | Hepcidin | 2 | 126-127delAG | R42Sfs | Pakistan |
| H | Ferroportin | 7 | 977G>A | C326Y | Thailand |