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NM_000152.5(GAA):c.271G>A (p.Asp91Asn) AND Acid alpha-glucosidase, allele 2

Germline classification:
Benign (1 submission)
Last evaluated:
Oct 28, 2012
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:
RCV000004235.9

Allele description [Variation Report for NM_000152.5(GAA):c.271G>A (p.Asp91Asn)]

NM_000152.5(GAA):c.271G>A (p.Asp91Asn)

Gene:
GAA:alpha glucosidase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q25.3
Genomic location:
Preferred name:
NM_000152.5(GAA):c.271G>A (p.Asp91Asn)
HGVS:
  • NC_000017.11:g.80104857G>A
  • NG_009822.1:g.8302G>A
  • NM_000152.5:c.271G>AMANE SELECT
  • NM_001079803.3:c.271G>A
  • NM_001079804.3:c.271G>A
  • NP_000143.2:p.Asp91Asn
  • NP_000143.2:p.Asp91Asn
  • NP_001073271.1:p.Asp91Asn
  • NP_001073272.1:p.Asp91Asn
  • LRG_673t1:c.271G>A
  • LRG_673:g.8302G>A
  • LRG_673p1:p.Asp91Asn
  • NC_000017.10:g.78078656G>A
  • NM_000152.3:c.271G>A
  • NM_000152.4:c.271G>A
  • P10253:p.Asp91Asn
Protein change:
D91N; ASP91ASN
Links:
UniProtKB: P10253#VAR_004285; OMIM: 606800.0001; dbSNP: rs1800299
NCBI 1000 Genomes Browser:
rs1800299
Molecular consequence:
  • NM_000152.5:c.271G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001079803.3:c.271G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001079804.3:c.271G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Acid alpha-glucosidase, allele 2
Identifiers:
MedGen: C4016979

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000024401OMIM
no assertion criteria provided
Benign
(Oct 28, 2012) 		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 the base-pair substitution responsible for a human acid alpha glucosidase allele with lower "affinity" for glycogen (GAA 2) and transient gene expression in deficient cells.

Martiniuk F, Bodkin M, Tzall S, Hirschhorn R.

Am J Hum Genet. 1990 Sep;47(3):440-5.

PubMed [citation]
PMID:
2203258
PMCID:
PMC1683879

Details of each submission

From OMIM, SCV000024401.1

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

Description

Alpha-glucosidase (GAA) exhibits a genetic polymorphism, with 3 alleles (GAA*1, GAA*2, and GAA*4) segregating in the population. GAA*2 allozyme can be identified by starch-gel electrophoresis, since the enzyme has less affinity for the starch and thus migrates more rapidly to the anode despite its basic pI. Martiniuk et al. (1990) demonstrated a 271G-A transition in the GAA gene, resulting in an asp91-to-asn (D91N) substitution, as the basis for this feature. The bp substitution abolished a TaqI site.

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

Last Updated: Nov 10, 2024