EC Number   |
Protein Variants |
Reference |
|---|
   1.14.16.5 | C231A |
the mutant enzyme activity is not significantly different from wild type |
726903 |
| 1.14.16.5 | C397A |
the mutant enzyme activity is not significantly different from wild type |
726903 |
| 1.14.16.5 | D153A |
the mutant enzyme activity is not significantly different from wild type |
726903 |
| 1.14.16.5 | D233A |
inactive |
726881 |
| 1.14.16.5 | D384A |
the mutant has significantly reduced, but clearly detectable, enzyme activity |
726903 |
| 1.14.16.5 | E137A |
the mutation leads to an 18fold increase in the Michaelis-Menten constant for tetrahydrobiopterin. The mutant has an approximately 5fold lower affinity for iron |
726903 |
| 1.14.16.5 | E152A |
the mutant has significantly reduced, but clearly detectable, enzyme activity |
726903 |
| 1.14.16.5 | E203A |
the mutant has significantly reduced, but clearly detectable, enzyme activity |
726903 |
| 1.14.16.5 | E212A |
the mutant has significantly reduced, but clearly detectable, enzyme activity |
726903 |
| 1.14.16.5 | E324K |
the mutation is associated with an autosomal recessive microcephaly |
745589 |
