EC Number   |
Protein Variants |
Reference |
|---|
   3.1.1.53 | G514A |
naturally occuring mutation |
730718 |
| 3.1.1.53 | G64S |
naturally occuring mutation, the enzyme shows unaltered catalytic activity compared to the wild-type enzyme. The mutant enzyme is poorly secreted when overexpressed |
730718 |
| 3.1.1.53 | H301N |
site-directed mutagenesis, inactive mutant |
716859 |
| 3.1.1.53 | H377A |
complete loss of activity |
750708 |
| 3.1.1.53 | H377A |
the mutation abolishes the enzymatic activity |
750708 |
| 3.1.1.53 | H447R |
naturally occuring mutation |
730718 |
| 3.1.1.53 | H472Q |
naturally occuring mutation |
730718 |
| 3.1.1.53 | K434T |
naturally occuring mutation |
730718 |
| 3.1.1.53 | K71R |
naturally occuring mutation from patients with anti-PIT-1 antibody syndrome. The mutation occurs in a heterozygous state in 2 of 3 patients with anti-PIT-1 antibody syndrome, and in 11% of control subjects, the prevalence is significantly increased in the patients |
729642 |
| 3.1.1.53 | K71R |
naturally occuring mutation, the enzyme shows over 50% catalytic activity compared to the wild-type enzyme. The mutant is secreted upon overexpression |
730718 |
