NM_000152.5(GAA):c.1634C>T (p.Pro545Leu) AND Glycogen storage disease II, adult form

Clinical significance:Pathogenic (Last evaluated: Dec 1, 1994)

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:
RCV000004247.4

Allele description [Variation Report for NM_000152.5(GAA):c.1634C>T (p.Pro545Leu)]

NM_000152.5(GAA):c.1634C>T (p.Pro545Leu)

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.1634C>T (p.Pro545Leu)
HGVS:
  • NC_000017.11:g.80111023C>T
  • NG_009822.1:g.14468C>T
  • NM_000152.5:c.1634C>TMANE SELECT
  • NM_001079803.3:c.1634C>T
  • NM_001079804.3:c.1634C>T
  • NP_000143.2:p.Pro545Leu
  • NP_001073271.1:p.Pro545Leu
  • NP_001073272.1:p.Pro545Leu
  • LRG_673t1:c.1634C>T
  • LRG_673:g.14468C>T
  • LRG_673p1:p.Pro545Leu
  • NC_000017.10:g.78084822C>T
  • NM_000152.4:c.1634C>T
  • P10253:p.Pro545Leu
Protein change:
P545L; PRO545LEU
Links:
UniProtKB: P10253#VAR_004297; OMIM: 606800.0013; dbSNP: rs121907942
NCBI 1000 Genomes Browser:
rs121907942
Molecular consequence:
  • NM_000152.5:c.1634C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001079803.3:c.1634C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001079804.3:c.1634C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Glycogen storage disease II, adult form
Identifiers:
MedGen: C4016981

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000024413OMIMno assertion criteria providedPathogenic
(Dec 1, 1994)
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

The effect of a single base pair deletion (delta T525) and a C1634T missense mutation (pro545leu) on the expression of lysosomal alpha-glucosidase in patients with glycogen storage disease type II.

Hermans MM, De Graaff E, Kroos MA, Mohkamsing S, Eussen BJ, Joosse M, Willemsen R, Kleijer WJ, Oostra BA, Reuser AJ.

Hum Mol Genet. 1994 Dec;3(12):2213-8.

PubMed [citation]
PMID:
7881422

Details of each submission

From OMIM, SCV000024413.3

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

Description

In a woman with adult-onset glycogen storage disease II (GSD2; 232300), Hermans et al. (1994) identified a homozygous 1634C-T transition in the GAA gene, resulting in a pro545-to-leu (P545L) substitution. She was diagnosed at age 42 years and died at age 51 years. This mutation was compatible with normal synthesis, but hindered enzyme activity and resulted in 92% loss of GAA activity. Another unrelated girl with juvenile-onset GSD II was compound heterozygous for P545L and 525delT (606800.0014).

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

Last Updated: Nov 27, 2021

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