EC Number |
Protein Variants |
Reference |
---|
4.1.1.28 | A275T |
naturally occuring mutation involved in aromatic-L-amino-acid decarboxylase deficiency |
748845 |
4.1.1.28 | A53T |
shows minimal dopamine synthesis |
681537 |
4.1.1.28 | A91V |
naturally occuring mutation involved in aromatic-L-amino-acid decarboxylase deficiency |
748845 |
4.1.1.28 | E227A/R228A/D229A/K230A |
replacement of amino acids 227-230 (ERDK) with alanine residues reduces reactivity to 13.6% compared to the wild type enzyme |
677950 |
4.1.1.28 | E608D |
c.1824A>C, naturally occuring mutation in enzyme DDC |
748545 |
4.1.1.28 | F309L |
naturally occuring mutation, involved in aromatic-L-amino-acid decarboxylase deficiency |
748845 |
4.1.1.28 | G102S |
naturally occuring mutation, involved in aromatic-L-amino-acid decarboxylase deficiency |
748845 |
4.1.1.28 | G143D |
c.428G>A, naturally occuring mutation in enzyme DDC |
748545 |
4.1.1.28 | H632Q |
c.1896C>A, naturally occuring mutation in enzyme DDC |
748545 |
4.1.1.28 | I170L |
c.508A>C, naturally occuring mutation in enzyme DDC |
748545 |