NAGS W484R - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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(NAGS Trp484Arg)

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated pathogenic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • None available.



Other external references

  • Score: 1.0 (probably damaging)
    Web search results (8 hits -- see all)
  • Mutation analysis in patients with N-acetylglutamate synthase ...
    NAGS deficiency is a rare inborn error of metabolism inherited as an autosomal recessive trait leading to ... c.1299G>C/E433S, c.1450T>C/W484R), as well as in a case with late ...
  • EC - amino-acid N-acetyltransferase
    Information on EC - amino-acid N-acetyltransferase ... W484R. Homo sapiens. mutations that causes NAGS deficiency, neonatal onset of disease. 673948. Y19C. Escherichia ...
  • FDA SUMMARY MEMORANDUM with Draft Questions for the Committee
    the deficiency of the hepatic enzyme N-acetylglutamate synthase (NAGS) ... meaningful effect of Carbaglu in the treatment of NAGS deficiency has been ...
  • Acetyltransferases :: deficiency
    BioInfoBank Library :: Acetyltransferases :: deficiency :: Neonatal hyperammonemia: the N-carbamoyl ... we identified the human gene for NAGS on chromosome 17q21.31. There is a ...
  • Misleading diagnosis of partial N-acetylglutamate synthase ...
    N-acetylglutamate synthase (NAGS) deficiency is a rare urea cycle disorder. ... were heterozygous for a private mutation (W484R), whereas the wild-type gene was ...
  • Koch, HG (H G)
    After the human NAGS gene was identified, mutation analysis revealed that the ... were heterozygous for a private mutation (W484R), whereas the wild-type gene was ...

Other in silico analyses

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 5

Edit history

Gene search

"GENE" or "GENE A123C":

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