NM_000152.5(GAA):c.1561G>A (p.Glu521Lys) AND Glycogen storage disease type II, infantile

Clinical significance:Pathogenic (Last evaluated: Sep 16, 1991)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000004237.3

Allele description [Variation Report for NM_000152.5(GAA):c.1561G>A (p.Glu521Lys)]

NM_000152.5(GAA):c.1561G>A (p.Glu521Lys)

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.1561G>A (p.Glu521Lys)
HGVS:
  • NC_000017.11:g.80110950G>A
  • NG_009822.1:g.14395G>A
  • NM_000152.5:c.1561G>AMANE SELECT
  • NM_001079803.3:c.1561G>A
  • NM_001079804.3:c.1561G>A
  • NP_000143.2:p.Glu521Lys
  • NP_001073271.1:p.Glu521Lys
  • NP_001073272.1:p.Glu521Lys
  • LRG_673t1:c.1561G>A
  • LRG_673:g.14395G>A
  • LRG_673p1:p.Glu521Lys
  • NC_000017.10:g.78084749G>A
  • NM_000152.3:c.1561G>A
  • NM_000152.4(GAA):c.1561G>A
  • P10253:p.Glu521Lys
Protein change:
E521K; GLU521LYS
Links:
UniProtKB: P10253#VAR_004295; OMIM: 606800.0003; dbSNP: rs121907937
NCBI 1000 Genomes Browser:
rs121907937
Molecular consequence:
  • NM_000152.5:c.1561G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001079803.3:c.1561G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001079804.3:c.1561G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Glycogen storage disease type II, infantile
Identifiers:
MedGen: C0751173

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000024403OMIMno assertion criteria providedPathogenic
(Sep 16, 1991)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

Identification of a point mutation in the human lysosomal alpha-glucosidase gene causing infantile glycogenosis type II.

Hermans MM, de Graaff E, Kroos MA, Wisselaar HA, Oostra BA, Reuser AJ.

Biochem Biophys Res Commun. 1991 Sep 16;179(2):919-26.

PubMed [citation]
PMID:
1898413

Details of each submission

From OMIM, SCV000024403.2

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

Description

In 2 children affected with Pompe disease (GSD2; 232300) from a consanguineous Indian family, Hermans et al. (1991) identified a homozygous G-to-A transition in exon 11 of the GAA gene, resulting in a glu521-to-lys (E521K) substitution, just 3 amino acids downstream from the catalytic site of the enzyme at asp518. Both parents were heterozygous for the mutant allele. Functional expression studies showed that the E521K mutation caused abnormal physical properties of the enzyme precursor in the patients and prevented formation of a catalytically active enzyme.

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

Last Updated: Aug 27, 2021

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