Table 1.
Mutations found in the UROD gene among porphyria cutanea tarda patients
| Mutation | Exon | Nucleotide position | Number of cases | Conserved | Reference |
|---|---|---|---|---|---|
| M1I | 1 | 3G>A | 1 | T | Present study |
| 5del10 | 1 | 5 | 1 | Present study | |
| A22V | 2 | 65C>T | 1 | L | Present study |
| F46L | 4 | 138T>I | 2 | H | Ged et al. (2002) |
| D79N | 4 | 235G>A | 1 | T | Present study |
| F84I | 4 | 250T>A | 1 | H | Present study |
| Q116X | 5 | 346C>T | 1 | Present study | |
| V134Q | 5 | 399-401TGC>CCA | 2 | L | Meguro et al. (1994) |
| T141I | 5 | 422C>T | 1 | L | Present study |
| R142Q | 5 | 425G>A | 2 | H | Cappellini et al. (2001) |
| P150L | 5 | 449C>T | 1 | H | Martinez et al. (2002) |
| Y182C | 6 | 645A>G | 1 | H | Present study |
| E218G | 7 | 653A>G | 4 | H | Méndez et al. (2007) |
H, highly conserved; L, low conservation among divergent species; T, totally conserved.