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Literature summary for 2.3.1.1 extracted from

  • Caldovic, L.; Morizono, H.; Tuchman, M.
    Mutations and polymorphisms in the human N-acetylglutamate synthase (NAGS) Gene (2007), Hum. Mutat., 28, 754-759.
    View publication on PubMed
Search for more literature for 2.3.1.1

Application

Application Comment Organism
medicine warly, accurate, and specific diagnosis of NAGS deficiency is critical since this condition can be successfully treated with N-carbamoylglutamate. Treatment with N-carbamoylglutamate should be initiated as soon as a patient is suspected of having NAGS deficiency. Molecular testing represents the most reliable method of diagnosis Homo sapiens

Protein Variants

Protein Variants Comment Organism
A279T mutations that causes NAGS deficiency, late onset of disease Homo sapiens
A518T mutations that causes NAGS deficiency, neonatal onset of disease Homo sapiens
C200R mutations that causes NAGS deficiency, late onset of disease Homo sapiens
E433D mutations that causes NAGS deficiency, late onset of disease Homo sapiens
L312P mutations that causes NAGS deficiency, late onset of disease Homo sapiens
L430P mutations that causes NAGS deficiency, neonatal onset of disease Homo sapiens
L442V mutations that causes NAGS deficiency, late onset of disease Homo sapiens
additional information report of 21 mutations that cause NAGS deficiency. A total of 10 disease-causing mutations are associated with acute neonatal hyperammonemia. The remaining mutations are found in patients with late onset disease. Residual enzymatic activities are included in this report and the deleterious effects of eight mutations are confirmed by expression studies Homo sapiens
R509Q mutations that causes NAGS deficiency, late onset of disease Homo sapiens
S410P mutations that causes NAGS deficiency, neonatal onset of disease Homo sapiens
T431I mutations that causes NAGS deficiency, late onset of disease Homo sapiens
V173E mutations that causes NAGS deficiency, late onset of disease Homo sapiens
V350I mutations that causes NAGS deficiency, late onset of disease Homo sapiens
W324X mutations that causes NAGS deficiency, neonatal onset of disease Homo sapiens
W484R mutations that causes NAGS deficiency, neonatal onset of disease Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens Q8N159
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Synonyms

Synonyms Comment Organism
NAGS
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 Homo sapiens