EC Number   |
Protein Variants |
Reference |
|---|
    4.1.1.9 | A69V |
naturally occuring mutation in the N-terminal helical domain, the mutantion is involved in enzyme deficiency |
728812 |
| 4.1.1.9 | C206S |
site-directed mutagenesis |
727943 |
| 4.1.1.9 | C206S/C243S |
site-directed mutagenesis |
727943 |
| 4.1.1.9 | C243S |
site-directed mutagenesis |
727943 |
| 4.1.1.9 | E302G |
site-directed mutagenesis |
727943 |
| 4.1.1.9 | E58A/K59A/E278A/E279A/K280A |
site-directed mutagenesis, crystal structure determination. The mutant exhibits similar oligomeric and enzymatic properties as wild-typ, both alanine-substituted patches are located in surface-exposed regions: Glu58-Lys59 is found in the loop connecting helices alphaA and alphaB, while the loop containing residues 278-280, connecting strands beta3 and beta4, is disordered |
728812 |
| 4.1.1.9 | G300V |
naturally occuring mutation in the GNAT core, the mutantion is involved in enzyme deficiency |
728812 |
| 4.1.1.9 | H152N |
naturally occuring compound heterozygous MLYCD mutation at the N-terminal helical domain |
727260 |
| 4.1.1.9 | H423N |
site-directed mutagenesis, the mutant shows a 7fold loss in kcat compared to the wild-type enzyme |
728812 |
| 4.1.1.9 | K210M |
completely inactive |
681625 |
