EC Number   |
Protein Variants |
Reference |
|---|
   2.3.1.78 | A489E |
missense mutant, mutation causes misfolding of the enzyme, which is abnormally glycosylated and not targeted to the lysosome, but retained in the endoplasmic reticulum |
706441 |
| 2.3.1.78 | A615T |
mutant represents a rare polymorphism which has no effect on the activity, processing and targeting of the enzyme |
706441 |
| 2.3.1.78 | C123S |
mutation within the lysosomal luminal loops, complete loss of activity. Mutants does not undergo intralysosomal maturation and does not form the mature oligomer |
719889 |
| 2.3.1.78 | C151S |
mutation within the lysosomal luminal loops, complete loss of activity. Mutants does not undergo intralysosomal maturation |
719889 |
| 2.3.1.78 | C305S |
mutation within the predicted cytosolic luminal loops, no loss of activity |
719889 |
| 2.3.1.78 | C308S |
mutation within the predicted cytosolic luminal loops, no loss of activity |
719889 |
| 2.3.1.78 | C374S |
mutation within the predicted cytosolic luminal loops, no loss of activity |
719889 |
| 2.3.1.78 | C434S |
mutation within the lysosomal luminal loops, complete loss of activity. Mutants does not undergo intralysosomal maturation and does not form the mature oligomer |
719889 |
| 2.3.1.78 | C76F |
missense mutant, mutation causes misfolding of the enzyme, which is abnormally glycosylated and not targeted to the lysosome, but retained in the endoplasmic reticulum |
706441 |
| 2.3.1.78 | C76F |
mutation within the lysosomal luminal loops, complete loss of activity. Mutants does not undergo intralysosomal maturation |
719889 |
