EC Number   |
Protein Variants |
Reference |
|---|
    1.3.1.21 | A247V |
natural mutant, Smith-Lemli-Opitz syndrome patient, 3.1% of wild-type enzyme activity, disease severity score is not directly correlated |
656818 |
| 1.3.1.21 | C122A |
mutation within Rieske [2Fe-2S]-motif, complete loss of activity |
725431 |
| 1.3.1.21 | C380Y |
natural mutant, Smith-Lemli-Opitz syndrome patient, 1.7% of wild-type enzyme activity, disease severity score is not directly correlated |
656818 |
| 1.3.1.21 | D234A |
mutation within non-heme Fe(II) binding motif, complete loss of activity |
725431 |
| 1.3.1.21 | E288K |
mutation isolated in patient with severe form of Smith-Lemli-Opitz syndrome, carrying additional heterozygous mutation I251N |
675995 |
| 1.3.1.21 | E288K |
the mutation is associated with Lemli-Opitz syndrome |
741102 |
| 1.3.1.21 | E448K |
natural mutation present in patient with Smith-Lemli-Opitz syndrome |
672825 |
| 1.3.1.21 | E448K |
the mutation is associated with Lemli-Opitz syndrome |
741102 |
| 1.3.1.21 | F174S |
enzyme mutation in patients with Smith-Lemli-Opitz syndrome |
676015 |
| 1.3.1.21 | F302L |
the mutation is associated with Lemli-Opitz syndrome |
741102 |
