EC Number   |
Protein Variants |
Reference |
|---|
    2.3.1.1 | A279T |
mutations that causes NAGS deficiency, late onset of disease |
673948 |
| 2.3.1.1 | A518T |
mutant enzymes from patients with NAGS missense mutations are overexpressed in Escherichia coli NK5992. All mutated proteins show severe decrease in enzyme activity providing evidence for the disease-causing nature of the mutations |
661264 |
| 2.3.1.1 | A518T |
mutations that causes NAGS deficiency, neonatal onset of disease |
673948 |
| 2.3.1.1 | A518T |
naturally occurring mutation of a turkish patient suffering hyperammonemia, reconstruction of the mutation by site-directed mutagenesis, mutant enzyme shows over 95% reduced activity compared to the wild-type enzyme |
661264 |
| 2.3.1.1 | C200R |
mutant enzymes from patients with NAGS missense mutations are overexpressed in Escherichia coli NK5992. All mutated proteins show severe decrease in enzyme activity providing evidence for the disease-causing nature of the mutations |
661264 |
| 2.3.1.1 | C200R |
mutations that causes NAGS deficiency, late onset of disease |
673948 |
| 2.3.1.1 | C200R |
naturally occurring mutation of a french patient suffering hyperammonemia, reconstruction of the mutation by site-directed mutagenesis, mutant enzyme shows over 95% reduced activity compared to the wild-type enzyme |
661264 |
| 2.3.1.1 | D336N |
point mutation |
704460 |
| 2.3.1.1 | delE283delQ284 |
decrease of enzyme activity, induced substrate inhibition by acetyl-CoA |
703712 |
| 2.3.1.1 | delQ284 |
increase of enzyme activity, triggered acetyl-CoA inhibition |
703712 |
