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NM_000262.3(NAGA):c.986G>A (p.Arg329Gln) AND Alpha-N-acetylgalactosaminidase deficiency type 2

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 1, 2001
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:
RCV000019796.27

Allele description [Variation Report for NM_000262.3(NAGA):c.986G>A (p.Arg329Gln)]

NM_000262.3(NAGA):c.986G>A (p.Arg329Gln)

Gene:
NAGA:alpha-N-acetylgalactosaminidase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q13.2
Genomic location:
Preferred name:
NM_000262.3(NAGA):c.986G>A (p.Arg329Gln)
HGVS:
  • NC_000022.11:g.42061039C>T
  • NG_009247.1:g.14804G>A
  • NM_000262.3:c.986G>AMANE SELECT
  • NM_001362848.1:c.986G>A
  • NM_001362850.1:c.986G>A
  • NP_000253.1:p.Arg329Gln
  • NP_001349777.1:p.Arg329Gln
  • NP_001349779.1:p.Arg329Gln
  • NC_000022.10:g.42457043C>T
  • NM_000262.2:c.986G>A
  • P17050:p.Arg329Gln
Protein change:
R329Q; ARG329GLN
Links:
UniProtKB: P17050#VAR_022525; OMIM: 104170.0005; dbSNP: rs121434533
NCBI 1000 Genomes Browser:
rs121434533
Molecular consequence:
  • NM_000262.3:c.986G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001362848.1:c.986G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001362850.1:c.986G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Alpha-N-acetylgalactosaminidase deficiency type 2
Synonyms:
ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY, TYPE II; NAGA DEFICIENCY, TYPE II; SCHINDLER DISEASE, TYPE II; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0012222; MedGen: C1836522; Orphanet: 3137; Orphanet: 79280; OMIM: 609242

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000040094OMIM
no assertion criteria provided
Pathogenic
(Feb 1, 2001) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

A new case of alpha-N-acetylgalactosaminidase deficiency with angiokeratoma corporis diffusum, with Ménière's syndrome and without mental retardation.

Kodama K, Kobayashi H, Abe R, Ohkawara A, Yoshii N, Yotsumoto S, Fukushige T, Nagatsuka Y, Hirabayashi Y, Kanzaki T.

Br J Dermatol. 2001 Feb;144(2):363-8.

PubMed [citation]
PMID:
11251574

Details of each submission

From OMIM, SCV000040094.1

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

Description

In a Japanese woman with Kanzaki disease (609242), Kodama et al. (2001) identified a homozygous 986G-A transition in the NAGA gene, resulting in an arg329-to-gln (R329Q) substitution. The patient had angiokeratoma corporis diffusum, Meniere syndrome, and no mental retardation. Her parents were consanguineous.

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

Last Updated: Jun 23, 2024