EC Number   |
Protein Variants |
Reference |
|---|
    1.6.1.2 | A1008P |
the mutation is associated with familial glucocorticoid deficiency |
734755, 742631 |
| 1.6.1.2 | A533V |
the mutation is associated with familial glucocorticoid deficiency |
734755 |
| 1.6.1.2 | A553V |
the mutation is associated with familial glucocorticoid deficiency |
742631 |
| 1.6.1.2 | D277Y |
the mutation is associated with left ventricular noncompaction |
742631 |
| 1.6.1.2 | E155W |
dIII domain, displays similar catalytic properties as wild type, introduced tryptophan fluorescence is sensitive to the redox state of the bound nucleotide |
659243 |
| 1.6.1.2 | F215S |
the mutant shows 31% of wild type activity |
741801 |
| 1.6.1.2 | F215S |
the mutation is associated with familial glucocorticoid deficiency |
742631 |
| 1.6.1.2 | G200S |
the mutation is associated with combined mineralocorticoid and glucocorticoid deficiency |
742631 |
| 1.6.1.2 | G200S |
the mutation is associated with familial glucocorticoid deficiency |
743069 |
| 1.6.1.2 | G664R |
the mutation is associated with familial glucocorticoid deficiency |
742631 |
