EC Number   |
Protein Variants |
Reference |
|---|
    1.14.14.16 | W302S |
the mutation impacts significantly on enzyme function and exerts activity compatible with simple virilizing congenital adrenal hyperplasia, has residual enzyme activity of about 3% compared to wild type activity for both, the conversion of progesterone to 11-deoxycorticosterone and the conversion of 17alpha-hydroxyprogesterone to 11-deoxycortisol |
698190 |
| 1.14.14.16 | W303R |
0.0001% of wild-type efficiency with substrate progesterone |
745363 |
| 1.14.14.16 | Y47C |
naturally occuring mutation, the mutation disables hydrogen bonding with H38, the interaction is compensated by a weak His-Cys interaction |
728691 |
| 1.14.14.16 | Y47L |
naturally occuring mutation, the mutation disrupts hydrogen bonds and causes salt-wasting congenital adrenal hyperplasia |
728691 |
| 1.14.14.16 | Y59N |
naturally occuring mutation, the mutation disrupts the hydrophobicity of the region resulting in loss of function |
728691 |
