EC Number   |
Protein Variants |
Reference |
|---|
    1.3.3.3 | A174T |
the mutation is associated with hepatic porphyrias |
765391 |
| 1.3.3.3 | A203T |
natural mutation due to single nucleotide substitution 607G>A, identified in a patient with hereditary coproporphyria |
697204 |
| 1.3.3.3 | C167S |
site-directed mutagenesis, activity and kinetics similar to the wild-type |
656175 |
| 1.3.3.3 | C357T |
the mutation is associated with hepatic porphyrias |
765391 |
| 1.3.3.3 | C991T/C1339T |
identification of 2 coexisting mutations, C991T and C1339T, on a single allele in the enzyme' gene in Swedish patients with hereditary coproporphyria, biochemical analysis of the patients carrying the mutations, overview |
656432 |
| 1.3.3.3 | D233G/DELTA403-406 |
the mutations are associated with harderoporphyria |
765393 |
| 1.3.3.3 | D274A |
site-directed mutagensis, inactive mutant |
725779 |
| 1.3.3.3 | D400A |
impaired catalytic ability, with 0.047% of wild-type total product efficiency |
677031 |
| 1.3.3.3 | D400A |
mutation severely impaires the catalytic activity, mutant performs, on average, less than a single turnover |
763670 |
| 1.3.3.3 | D400A |
site-directed mutagenesis, the inactive mutant D400A remains in a monomeric form |
745239 |
