EC Number |
Protein Variants |
Reference |
---|
4.1.3.16 | C257G |
natural mutation associated with Primary Hyperoxaluria type 3. Mutant is quite unstable, has a tendency to aggregate, and retains no measurable activity |
721727 |
4.1.3.16 | DeltaE315 |
natural mutation associated with Primary Hyperoxaluria type 3. Mutant is quite unstable, has a tendency to aggregate, and retains no measurable activity |
721727 |
4.1.3.16 | G287V |
natural mutation associated with Primary Hyperoxaluria type 3. Mutant is quite unstable, has a tendency to aggregate, and retains no measurable activity |
721727 |
4.1.3.16 | G287V |
the mutation is associated with primary hyperoxaluria type 3 |
748294 |
4.1.3.16 | K196A |
complete loss of activity |
723542 |
4.1.3.16 | N78A |
20% of wild-type activity |
723542 |
4.1.3.16 | N78Q |
4% of wild-type activity |
723542 |
4.1.3.16 | N78T |
45% of wild-type activity |
723542 |
4.1.3.16 | P190L |
natural mutation associated with Primary Hyperoxaluria type 3. Mutant is quite unstable, has a tendency to aggregate, and retains no measurable activity |
721727 |
4.1.3.16 | P190L |
the mutation is associated with primary hyperoxaluria type 3 |
748294 |