EC Number   |
Protein Variants |
Reference |
|---|
    4.3.2.2 | A219V |
site-directed mutagenesis, inactive mutant |
729296 |
| 4.3.2.2 | A260GfsX24 |
the mutation is associated with ADSL deficiency |
709392 |
| 4.3.2.2 | D215H |
naturally occuring mutation, two homozygous and two compound heterozygous mutant variants |
694197 |
| 4.3.2.2 | D215H |
the mutation is associated with ADSL deficiency and shows 92% activity using 5-aminoimidazole-4-(N-succinylcarboxamide) ribonucleotide as substrate at 25°C compared to the wild type enzyme |
708663 |
| 4.3.2.2 | D268H |
naturally occuring mutation, two homozygous and two compound heterozygous mutant variants |
694197 |
| 4.3.2.2 | D268H |
the mutation is associated with ADSL deficiency and shows 20% activity using 5-aminoimidazole-4-(N-succinylcarboxamide) ribonucleotide as substrate at 25°C compared to the wild type enzyme |
708663 |
| 4.3.2.2 | D422Y |
mutant without enzyme activity |
664255 |
| 4.3.2.2 | D430N |
mutant without enzyme activity |
664255 |
| 4.3.2.2 | D430N |
the mutation is associated with ADSL deficiency and shows 151% activity using 5-aminoimidazole-4-(N-succinylcarboxamide) ribonucleotide as substrate at 25°C compared to the wild type enzyme |
708663 |
| 4.3.2.2 | D65R |
mutant with differences in thermal stability, catalytic activity and substrate binding |
665595 |
