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NM_024312.5(GNPTAB):c.1120T>C (p.Phe374Leu) AND Pseudo-Hurler polydystrophy

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 1, 2009
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:
RCV000002904.3

Allele description [Variation Report for NM_024312.5(GNPTAB):c.1120T>C (p.Phe374Leu)]

NM_024312.5(GNPTAB):c.1120T>C (p.Phe374Leu)

Gene:
GNPTAB:N-acetylglucosamine-1-phosphate transferase subunits alpha and beta [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q23.2
Genomic location:
Preferred name:
NM_024312.5(GNPTAB):c.1120T>C (p.Phe374Leu)
HGVS:
  • NC_000012.12:g.101770185A>G
  • NG_021243.1:g.65683T>C
  • NM_024312.5:c.1120T>CMANE SELECT
  • NP_077288.2:p.Phe374Leu
  • NC_000012.11:g.102163963A>G
  • NM_024312.4:c.1120T>C
  • Q3T906:p.Phe374Leu
Protein change:
F374L; PHE374LEU
Links:
UniProtKB: Q3T906#VAR_062807; OMIM: 607840.0015; dbSNP: rs137852900
NCBI 1000 Genomes Browser:
rs137852900
Molecular consequence:
  • NM_024312.5:c.1120T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Pseudo-Hurler polydystrophy (ML3)
Synonyms:
ML III; ML III ALPHA/BETA; Mucolipidosis type 3A; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0018931; MedGen: C0033788; Orphanet: 577; OMIM: 252600

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000023062OMIM
no assertion criteria provided
Pathogenic
(Mar 1, 2009) 		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

Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation.

Otomo T, Muramatsu T, Yorifuji T, Okuyama T, Nakabayashi H, Fukao T, Ohura T, Yoshino M, Tanaka A, Okamoto N, Inui K, Ozono K, Sakai N.

J Hum Genet. 2009 Mar;54(3):145-51. doi: 10.1038/jhg.2009.3. Epub 2009 Feb 6.

PubMed [citation]
PMID:
19197337

Details of each submission

From OMIM, SCV000023062.1

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

Description

Otomo et al. (2009) identified a 1120T-C transition in exon 10 of the GNPTAB gene, resulting in a phe374-to-leu (F374L) substitution in 7 of 15 unrelated Japanese patients with mucolipidosis III (252600). Most were in compound heterozygosity with R1189X (607840.0004). Only 1 of 25 patients with a diagnosis of the more severe mucolipidosis II (252500) carried the F374L mutation; the second mutant allele in this patient was not identified. However, Otomo et al. (2009) stated that this patient had a relatively attenuated course, suggesting that F374L is associated with milder clinical manifestations. The F374L mutation occurred in 8 (10%) of 80 mutant alleles. Analysis of surrounding polymorphisms suggested a founder effect.

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

Last Updated: Dec 17, 2022