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NM_000152.3(GAA):c.2065G>A (p.Glu689Lys) AND Acid alpha-glucosidase, allele 4

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 1, 1996
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:
RCV000004245.1

Allele description

NM_000152.3(GAA):c.2065G>A (p.Glu689Lys)

Gene:
GAA:alpha glucosidase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q25.3
Genomic location:
Preferred name:
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys)
HGVS:
  • NC_000017.11:g.80113242G>A
  • NG_009822.1:g.16687G>A
  • NM_000152.5:c.2065G>AMANE SELECT
  • NM_001079803.3:c.2065G>A
  • NM_001079804.3:c.2065G>A
  • NP_000143.2:p.Glu689Lys
  • NP_001073271.1:p.Glu689Lys
  • NP_001073272.1:p.Glu689Lys
  • LRG_673t1:c.2065G>A
  • LRG_673:g.16687G>A
  • NC_000017.10:g.78087041G>A
  • NM_000152.3(GAA):c.2065G>A
  • NM_000152.3:c.2065G>A
  • NM_000152.4:c.2065G>A
  • NM_001079803.1:c.2065G>A
  • NM_001079804.1:c.2065G>A
  • P10253:p.Glu689Lys
Protein change:
E689K; GLU689LYS
Links:
UniProtKB: P10253#VAR_004309; OMIM: 606800.0011; dbSNP: rs1800309
NCBI 1000 Genomes Browser:
rs1800309
Molecular consequence:
  • NM_000152.5:c.2065G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001079803.3:c.2065G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001079804.3:c.2065G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Acid alpha-glucosidase, allele 4
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000024411OMIM
no assertion criteria provided
Pathogenic
(Sep 1, 1996) 		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

Identification of an E689K substitution as the molecular basis of the human acid alpha-glucosidase type 4 allozyme (GAA*4).

Huie ML, Menaker M, McAlpine PJ, Hirschhorn R.

Ann Hum Genet. 1996 Sep;60(5):365-8.

PubMed [citation]
PMID:
8912788

Details of each submission

From OMIM, SCV000024411.2

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

Description

The normal population exhibits 3 genetic biochemical polymorphic GAA allozymes, GAA*1, GAA*2, and GAA*4, with gene frequencies of 0.9, 0.03, and 0.06, respectively. The molecular basis of the GAA*2 allozyme is a 271A-G transition (606800.0001) leading to a D91N amino acid substitution as compared with the more common GAA*1 allozyme. Huie et al. (1996) demonstrated that the molecular basis of the GAA*4 allozyme is a 2065G-A transition, predicting a glu689-to-lys (E689K) substitution.

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

Last Updated: Jun 18, 2022