EC Number   |
Protein Variants |
Reference |
|---|
   1.14.11.65 | D1012N |
mutation identified in patients with atrichia with papular lesions, almost abolishes the demethylase activity |
744861 |
| 1.14.11.65 | D1012N |
site-directed mutagenesis, reduced activity of the mutant compared to wild-type |
744861 |
| 1.14.11.65 | D1012N |
the mutation abolishes the enzyme activity |
744861 |
| 1.14.11.65 | F279S |
mutation identified in patients with X-linked mental retardation. abolishes catalytic activity |
754882 |
| 1.14.11.65 | F279S |
mutation identified in X-linked mental retardation patients, mutant is defective in enzymatic activity |
753207 |
| 1.14.11.65 | F279S |
site-directed mutagenesis |
744413 |
| 1.14.11.65 | H1120G/D1122N |
a catalytically-inactive KDM3A mutant |
744782 |
| 1.14.11.65 | H1120Y |
inactive |
754104 |
| 1.14.11.65 | H1120Y |
loss of enzymatic activity |
754104 |
| 1.14.11.65 | H1560A/D1562A/H1689A |
catalytically inactive mutant, carries mutations in the conserved cofactor (Fe2+) binding site |
753200 |
