EC Number   |
Protein Variants |
Reference |
|---|
   3.2.1.45 | 1263del55 |
the activity is significantly reduced |
655498 |
| 3.2.1.45 | 1326insT |
the activity is significantly reduced |
655498 |
| 3.2.1.45 | 303-305delCAC |
mutation identified in a homozygous state in one patient of Gaucher disease type 1 or 3 |
697746 |
| 3.2.1.45 | 72delC |
the activity is significantly reduced |
655498 |
| 3.2.1.45 | A456P |
the mutation is associated with Gaucher disease |
751573 |
| 3.2.1.45 | A456P |
the mutation is associated with Parkonson's disease |
751201 |
| 3.2.1.45 | C16S |
homozygosity for the missense mutation C16S results in the loss of a cysteine residue. The genotype would be predicted to result in virtually zero enzyme activity |
664841 |
| 3.2.1.45 | D140H |
mean activity of mutant compared to wild-type: 67.7% |
716240 |
| 3.2.1.45 | D140H/E326K |
mean activity of mutant compared to wild-type: 22.2% |
716240 |
| 3.2.1.45 | D223E |
mutation decreases the activity |
655913 |
