EC Number   |
Protein Variants |
Reference |
|---|
    1.3.1.3 | C352G |
site-directed mutagenesis, mutation at the substrate binding site, the mutant shows reduced activity compared to the wild-type enzyme |
726120 |
| 1.3.1.3 | D181T/L182Q |
site-directed mutagenesis, mutation at motif V, the mutant shows reduced activity compared to the wild-type enzyme |
726120 |
| 1.3.1.3 | E120A |
mutant is devoid of activity |
687723 |
| 1.3.1.3 | F353M |
site-directed mutagenesis, mutation at the substrate binding site, the mutant shows similar activity as the wild-type enzyme |
726120 |
| 1.3.1.3 | F353P |
site-directed mutagenesis, mutation at the substrate binding site, the mutant shows similar activity as the wild-type enzyme |
726120 |
| 1.3.1.3 | G204N |
site-directed mutagenesis, mutation at motif IV, the mutant shows reduced activity compared to the wild-type enzyme |
726120 |
| 1.3.1.3 | G223E |
naturally occuring mutation, identified in patients with functional bile acid deficiency, a non-synonymous point mutations in highly conserved portions of the AKR1D1 gene |
724713 |
| 1.3.1.3 | G223E |
naturally occuring mutation, identified in patients with functional bile acid deficiency, inactive mutant |
725399 |
| 1.3.1.3 | G223E |
the naturally occuring mutation of gene SRD5B1 are involved in hyper-3-oxo-DELTA4 bile aciduria from primary 3-oxo-DELTA4-steroid 5beta-reductase deficiency, phenotypes, overview |
704908 |
| 1.3.1.3 | L106F |
mutant identified in patient with reduced enzymic activity |
725399 |
