EC Number   |
Protein Variants |
Reference |
|---|
    2.5.1.61 | 887insA |
site-directed mutagenesis, the mutant shows reduced expression and subcellular distribution compared to the wild-type enzyme |
672383 |
| 2.5.1.61 | A226P |
c.675delA (p.Ala226ProfsX28) |
707112 |
| 2.5.1.61 | A226P |
c.675delA, exon 12, 0.05% wild type activity, small deletion leads to stop codon after 28 completely different amino acids compared to wild type, 50 mM Tris-HCl, pH 8.2, 0.1% bovine serum albumin, 0.1% Triton, pH 8.2, 37°C, 1 h in the dark |
708471 |
| 2.5.1.61 | A31P |
0.6% of wild-type activity |
760071 |
| 2.5.1.61 | A31T |
0.50% of wild-type activity |
760071 |
| 2.5.1.61 | A84T |
type OregonAR (c250G>A), autosomal recessive, therefore phenotype is homozygous, about 35% wild type activity |
703965 |
| 2.5.1.61 | D44A |
specific activity is only about 2% of that of the wild type enzyme |
685506 |
| 2.5.1.61 | D99G |
3.2% of wild-type activity |
760071 |
| 2.5.1.61 | D99G |
site-directed mutagenesis, inactive holo-enzyme mutant existing as a complex with 2 substrate molecules covalently bound to the dipyrromethane cofactor |
661042 |
| 2.5.1.61 | D99H |
3.3% of wild-type activity |
760071 |
