EC Number   |
Protein Variants |
Reference |
|---|
    1.14.16.1 | A104D |
naturally occuring mutation in the regulatory domain, that affects enzyme activity and is involved in the disorder hyperphenylalaninemia |
686957 |
| 1.14.16.1 | A104D |
the mutant with wild type activity exhibits less than 50% of wild type protein level and leads to mild phenyletonuria |
728775 |
| 1.14.16.1 | A202T |
the mutation is associated with phenylketonuria |
697799 |
| 1.14.16.1 | A259T |
the mutant with wild type activity exhibits less than 50% of wild type protein level |
728775 |
| 1.14.16.1 | A259T |
the mutation is associated with phenylketonuria |
697799 |
| 1.14.16.1 | A259V |
the mutant with wild type activity exhibits less than 50% of wild type protein level and leads to classic phenyletonuria |
728775 |
| 1.14.16.1 | A300S |
naturally occuring mutation involved in hyperphenylalaninemia and/or in phenylketonuria, overview |
684443 |
| 1.14.16.1 | A300S |
the mutant shows 31% activity compared to the wild type enzyme |
745782 |
| 1.14.16.1 | A300S |
the mutation is associated with phenylketonuria |
745105, 745582 |
| 1.14.16.1 | A309V |
the mutant shows 70% of wild type activity |
728775 |
