NAGS W484R - GET-Evidence

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

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Curation:
Currentness:

NAGS W484R

(NAGS Trp484Arg)


Short summary

 

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

Impact

Insufficiently evaluated pathogenic

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

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • None available.

Publications
 

Genomes
 

Other external references
 

    PolyPhen-2
  • 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 ...
    www.ncbi.nlm.nih.gov/pubmed/12754705
  • EC 2.3.1.1 - amino-acid N-acetyltransferase
    Information on EC 2.3.1.1 - amino-acid N-acetyltransferase ... W484R. Homo sapiens. mutations that causes NAGS deficiency, neonatal onset of disease. 673948. Y19C. Escherichia ...
    www.brenda-enzymes.info/php/result_flat.php4?ecno=2.3.1.1
  • 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 ...
    fda.gov/downloads/AdvisoryCommittees/.../UCM196836.pdf
  • 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 ...
    lib.bioinfo.pl/meid:8548
  • 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 ...
    www.medscape.com/medline/abstract/15858972?prt=true
  • 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 ...
    lib.bioinfo.pl/auid:113580

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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