EC Number   |
Protein Variants |
Reference |
|---|
    3.1.2.22 | A179T |
loss-of-function allele |
710070 |
| 3.1.2.22 | S77F |
loss-of-function allele |
710070 |
| 3.1.2.22 | A179T |
loss-of-function allele, although endocytosis and endo-lysosomal trafficking does occur in Ppt1 mutant garland cells, there is a reduced level of uptake and a decreased rate of trafficking to the lysosomes |
710070 |
| 3.1.2.22 | S77F |
loss-of-function allele, although endocytosis and endo-lysosomal trafficking does occur in Ppt1 mutant garland cells, there is a reduced level of uptake and a decreased rate of trafficking to the lysosomes |
710070 |
| 3.1.2.22 | A179T |
loss-of-function mutant, shows an increased frequency of mini excitatory junctional potentials, defects in vesicle cycling during and following repetitive stimulation, and a decreased rate of fluorescent endocytic tracer FM1-43 endocytosis |
729768 |
| 3.1.2.22 | S77F |
loss-of-function mutant, shows an increased frequency of mini excitatory junctional potentials, defects in vesicle cycling during and following repetitive stimulation, and a decreased rate of fluorescent endocytic tracer FM1-43 endocytosis |
729768 |
| 3.1.2.22 | S199A/S214A |
mutant enzyme with very low enzyme activity |
678930 |
| 3.1.2.22 | S214A |
mutant shows 31% of normal activity |
678930 |
| 3.1.2.22 | S199A |
mutation shows 1-5% of normal activity |
678930 |
| 3.1.2.22 | S234A |
mutation shows 1-5% of normal activity. Partial localization to lysosomes, although a major proportion is retained in the endoplasmic reticulum |
678930 |
