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NM_153006.3(NAGS):c.1450T>C (p.Trp484Arg) AND Hyperammonemia, type III

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 1, 2007
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000002535.3

Allele description [Variation Report for NM_153006.3(NAGS):c.1450T>C (p.Trp484Arg)]

NM_153006.3(NAGS):c.1450T>C (p.Trp484Arg)

Gene:
NAGS:N-acetylglutamate synthase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_153006.3(NAGS):c.1450T>C (p.Trp484Arg)
HGVS:
  • NC_000017.11:g.44007772T>C
  • NG_008106.1:g.8109T>C
  • NG_023338.1:g.1698A>G
  • NM_153006.3:c.1450T>CMANE SELECT
  • NP_694551.1:p.Trp484Arg
  • NC_000017.10:g.42085140T>C
  • Q8N159:p.Trp484Arg
Protein change:
W484R; TRP484ARG
Links:
UniProtKB: Q8N159#VAR_023509; OMIM: 608300.0007; dbSNP: rs104894606
NCBI 1000 Genomes Browser:
rs104894606
Molecular consequence:
  • NM_153006.3:c.1450T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hyperammonemia, type III (NAGSD)
Synonyms:
NAG synthetase deficiency; Hyperammonemia due to N-acetylglutamate synthase deficiency
Identifiers:
MONDO: MONDO:0009377; MedGen: C0268543; Orphanet: 927; OMIM: 237310

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000022693OMIM
no assertion criteria provided
Pathogenic
(Aug 1, 2007) 		germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Mutation analysis in patients with N-acetylglutamate synthase deficiency.

Häberle J, Schmidt E, Pauli S, Kreuder JG, Plecko B, Galler A, Wermuth B, Harms E, Koch HG.

Hum Mutat. 2003 Jun;21(6):593-7.

PubMed [citation]
PMID:
12754705

Mutations and polymorphisms in the human N-acetylglutamate synthase (NAGS) gene.

Caldovic L, Morizono H, Tuchman M.

Hum Mutat. 2007 Aug;28(8):754-9.

PubMed [citation]
PMID:
17421020

Details of each submission

From OMIM, SCV000022693.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

Haberle et al. (2003) concluded that a deceased patient who had neonatal hyperammonemia due to N-acetylglutamate synthase deficiency (NAGSD; 237310) was homozygous for a trp484-to-arg (W484R) mutation in the NAGS gene because both parents were heterozygous for the mutation.

Caldovic et al. (2007) found that the W484R substitution has less than 5% residual enzyme activity. The substitution results from a 1450T-C transition in exon 6.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 29, 2022