EC Number   |
Protein Variants |
Reference |
|---|
    3.1.2.22 | A179T |
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 | 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 | C6S |
the activity of the non-palmitoylatable mutant significantly surpasses that of the wild type enzyme by more than 42% in the cell lysate and 25% in the cell medium |
751937 |
| 3.1.2.22 | D233N |
site-directed mutagenesis, inactive mutant |
653651 |
| 3.1.2.22 | D79G |
naturally occurring mutation, recombinant enzyme shows 32.8% of the wild-type activity, mutation is associated with the juvenile form of neuronal ceroid lipofuscinosis, no binding of mannose 6-phosphate receptor |
651450 |
| 3.1.2.22 | D79G |
site-directed mutagenesis, highly reduced activity |
653651 |
| 3.1.2.22 | E184K |
naturally occurring mutation, recombinant enzyme is nearly inactive showing an activity below 2% of the wild-type activity, mutation is associated with the infantile form of neuronal ceroid lipofuscinosis, no binding of mannose 6-phosphate receptor |
651450 |
| 3.1.2.22 | F84del |
natural deletion mutation in gene ppt1, leading to enzyme deficiency and infantile progressive neurological defects |
651455 |
| 3.1.2.22 | G118D |
natural mutation in gene ppt1, leading to enzyme deficiency and infantile progressive neurological defects |
651455 |
