EC Number   |
Protein Variants |
Reference |
|---|
    2.6.1.44 | A112D |
less than 5% of the specific activity of the wild type enzyme |
676030 |
| 2.6.1.44 | A280V |
natural mutant from patient with primary hyperoxaluria type 1, 92% of normal enzyme activity |
662884 |
| 2.6.1.44 | C173Y |
less than 5% of the specific activity of the wild type enzyme |
676030 |
| 2.6.1.44 | D183N |
less than 5% of the specific activity of the wild type enzyme |
676030 |
| 2.6.1.44 | DELTA 1-21 |
purified protein does not show bound PLP (affinity is about 80fold lower than wild type protein), catalytic activity about 1000fold lower than wild type protein, expressed in Escherichia coli in an insoluble form, peroxisomal localization, expressed in CHO cells the mutant protein forms large stable but catalytically inactive aggregates in the peroxisomes |
722393 |
| 2.6.1.44 | F152A |
the mutant shows decreased activity compared to the wild type enzyme |
704634 |
| 2.6.1.44 | F152I |
natural mutation in enzyme minor allele, decreased activity |
687769 |
| 2.6.1.44 | F152I |
soluble, catalytically active |
721718 |
| 2.6.1.44 | F152I |
the mutation is associated with primary hyperoxaluria type 1 in combination with the minor AGT allele and shows decreased activity compared to the wild type enzyme |
704634 |
| 2.6.1.44 | F238S |
site-directed mutagenesis |
758860 |
