EC Number   |
Protein Variants |
Reference |
|---|
   3.1.6.2 | C446Y |
patient with X-linked ichthyosis |
135622 |
| 3.1.6.2 | DELTA1-21 |
lacks 21 N-terminal amino acids, that encode the signal peptide, reduced STS activity |
694168 |
| 3.1.6.2 | DELTA185-583 |
lacks 399 C-terminal amino acids, reduced STS activity |
694168 |
| 3.1.6.2 | H136F |
point mutation in histidine 136, reduced STS activitiy |
694168 |
| 3.1.6.2 | H136W |
point mutation in histidine 136, reduced STS activity |
694168 |
| 3.1.6.2 | H136Y |
point mutation in histidine 136, reduced STS activity |
694168 |
| 3.1.6.2 | H444R |
patient with X-linked ichthyosis |
135622 |
| 3.1.6.2 | I156L/K158E/L325F |
140fold increase in catalyticefficiency, 3.5 degrees increase in melting temperature at pH 9.0 |
749452 |
| 3.1.6.2 | I156V/L157V/K158I/K330V |
140fold increase in catalyticefficiency |
749452 |
| 3.1.6.2 | K330V |
catalytic efficiency similar to wild-type |
-, 749452 |
