EC Number   |
Protein Variants |
Reference |
|---|
    4.2.1.75 | A104V |
a naturally occuring mutation in the enzyme involved in congenital erythropoietic porphyria |
713692 |
| 4.2.1.75 | A104V |
a naturally occuring mutation, 60.6% activity compared to the wild-type enzyme |
696334 |
| 4.2.1.75 | A66V |
a naturally occuring mutation in the enzyme involved in congenital erythropoietic porphyria |
713692 |
| 4.2.1.75 | A66V |
a naturally occuring mutation, 95.6% activity compared to the wild-type enzyme |
696334 |
| 4.2.1.75 | A66V |
clinical mutation, altered tertiary structure |
650984 |
| 4.2.1.75 | A69T |
a naturally occuring mutation in the enzyme involved in congenital erythropoietic porphyria |
713692 |
| 4.2.1.75 | A69T |
a naturally occuring mutation, 24.4% activity compared to the wild-type enzyme |
696334 |
| 4.2.1.75 | C73A |
99% of wild-type activity |
662062 |
| 4.2.1.75 | C73A |
computational modeling, structure comparison with the wild-type enzyme and the other C73 mutants |
715590 |
| 4.2.1.75 | C73D |
computational modeling, structure comparison with the wild-type enzyme and the other C73 mutants |
715590 |
