EC Number   |
Protein Variants |
Reference |
|---|
    1.13.11.5 | A122D |
loss of structural and molecular dynamic properties of the enzyme, the mutation is potentially related with the severity of alkaptonuria |
765103 |
| 1.13.11.5 | A122D |
the mutant shows strongly reduced specific activity compared to the wild type enzyme |
742317 |
| 1.13.11.5 | A122D |
the mutation is potentially related with the severity of alkaptonuria |
765103 |
| 1.13.11.5 | C1273A |
naturally occuring mutation, the mutation is involved in alkaptonuria |
726475 |
| 1.13.11.5 | D120A |
transformant shows a non-pigmented phenotype |
-, 764757 |
| 1.13.11.5 | E401Q |
the missense variant E401Q is responsible for development of Alkaptonuria |
764530 |
| 1.13.11.5 | E42A |
the mutant shows strongly reduced specific activity compared to the wild type enzyme |
742317 |
| 1.13.11.5 | F136A |
transformant shows a pigmented phenotype |
-, 764757 |
| 1.13.11.5 | G119A |
transformant shows a non-pigmented phenotype |
764757 |
| 1.13.11.5 | G128A |
transformant shows a pigmented phenotype |
764757 |
