EC Number   |
Protein Variants |
Reference |
|---|
   3.5.1.12 | A171T/D444H |
15-27% activity compared to the wild type enzyme |
689004 |
| 3.5.1.12 | A171T/D444H |
naturally occuring mutation involved in BTD deficiency in Hungarian patients |
712653 |
| 3.5.1.12 | A82D |
4% activity compared to the wild type enzyme |
689004 |
| 3.5.1.12 | C160Y |
impaired biotinidase activity (activity in cells: 14%, activity in medium: 0.3%) and undetectable amount of protein in intra and extracellular space. Variant identified among Brazilian individuals showing low activity of biotinidase in serum |
754744 |
| 3.5.1.12 | C186Y/D444H |
naturally occuring mutation involved in biotinidase deficiency |
733935 |
| 3.5.1.12 | C418S/D444H |
24% activity compared to the wild type enzyme |
689004 |
| 3.5.1.12 | C458fs/H323R |
naturally occuring mutation involved in biotinidase deficiency, no phenotype |
734697 |
| 3.5.1.12 | D222N |
variant shows normal activity |
754744 |
| 3.5.1.12 | D228G/D444H |
naturally occuring mutation involved in biotinidase deficiency, no phenotype |
734697 |
| 3.5.1.12 | D444H |
expression of the variant results in detectable protein and slightly reduced activity in cells (activity in cells: 46%; activity in medium: 115%) |
754744 |
