EC Number   |
Protein Variants |
Reference |
|---|
   1.1.1.315 | A294P |
naturally occuring mutation, 52% of wild-type activity in cell-reporter assay, active in vitro |
715455 |
| 1.1.1.315 | D128N |
naturally occuring mutation, less than 1% of wild-type activity in cell-reporter assay |
715455 |
| 1.1.1.315 | D169A |
mutant enzyme completely loses enzymatic activity |
690842 |
| 1.1.1.315 | D169N |
mutant enzyme completely loses enzymatic activity |
690842 |
| 1.1.1.315 | DELTA289-318 |
results show that the N-terminal hydrophobic domain is a membrane-anchoring domain |
715709 |
| 1.1.1.315 | G238W |
natural mutation identiied in patient with fundus albipunctatus, about 10% residual activity |
716309 |
| 1.1.1.315 | G238W |
naturally occuring mutation, 4% of wild-type activity in cell-reporter assay, no activity in vitro |
715455 |
| 1.1.1.315 | G35S |
naturally occuring mutation, 1.7% of wild-type activity in cell-reporter assay |
715455 |
| 1.1.1.315 | G43A/G47A/G49A |
mutant enzyme completely loses enzymatic activity |
690842 |
| 1.1.1.315 | K214A |
mutant enzyme completely loses enzymatic activity |
690842 |
