Pompe disease GAA variant database
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Variants [135]

Link to Pubmed Location DNA nomenclature RNA nomenclature Protein nomenclature Type of variant DNA Type of variant RNA Type of variant Protein MAF RS number Biochemical evidence of pathogenicity Splicing and translation prediction Biochemical evidence of CRIM status Prediction of CRIM status Number of patients Id Predicted severity Phenotype with null allele CRIM status Missense prediction (Mutation Taster) Missense prediction (SIFT) Missense prediction (Align GVGD)
PubMed exon 3 c.655G>A r.(655g>a) p.(Gly219Arg) Substitution Substitution Substitution (missense) MAF is less than 1% rs370950728 gives 0,5% (4MU) and 0% (glycogen) residual activity in expression study no effect on splicing endogenous protein on western blot protein is expressed 135 Potentially less severe Classic infantile Positive Disease causing (p-value: 1) Deleterious (score: 0.01) Class C25 (GV: 60.00 - GD: 97.30)
Displaying 1 - 15 of 15
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patients 		Allele 1 DNA Allele 2
Location 		Allele 2 DNA Allele 2
Phenotype with a null allele 		Phenotype
of patient 		Age of
Onset 		Gender Age at
analysis 		Cardiomyopathy Liver/
Spleen 		Ventilatory
support 		Respiratory
problems 		Wheelchair
dependency 		Mobility
problems 		(Kypho)
Scoliosis 		Ptosis Scapular
winging 		Cerebral vessels
anomalies 		No of patients
reported 		Country/Region
PubMed c.655G>A exon 4 c.784G>A Classic infantile Classic infantile 2.5-4 months F died at 10 months + + 1 Spain
PubMed c.655G>A exon 5 c.923A>C Classic infantile Classic infantile <1 year <1.5 years + 1 Germany
PubMed c.655G>A exon 13 c.1796C>A Unknown (disease-associated) unknown prenatal died + 1 Italy
PubMed c.655G>A exon 13 c.1799G>A Classic infantile Classic infantile 3 months M 4 months + + 1 France
PubMed c.655G>A intron 1B c.-32-13T>G Childhood or Adult Adult 34 years M 62 years + + + 1 France
PubMed c.655G>A exon 12 c.1735G>A Classic infantile Classic infantile <6 months M 5.5 months + 1 Caucasian
PubMed c.655G>A intron 1B c.-32-13T>G Childhood or Adult asymptomatic Asymptomatic M 2 years Bilateral calf hypertrophy 1 France
PubMed c.655G>A exon 14 c.1979G>A Childhood Classic infantile <1 year 1 USA
PubMed c.655G>A exon 3 c.655G>A Classic infantile Classic infantile <1 year 1 USA
PubMed c.655G>A exon 3 c.655G>A Classic infantile Classic infantile <1 year 1 USA
PubMed c.655G>A exon 2 c.169C>T Classic infantile Childhood 3 years F 24 years - - - - - 1 Japan
PubMed c.655G>A exon 3 c.655G>A Classic infantile Classic infantile 3 months/3w/3 months M/M/F 3 months/3 months/6 months + -/-/+ + -/-/+ 3 Saudi Arabia
PubMed c.655G>A intron 1B c.-32-13T>G Childhood or Adult Adult ranging 31 to 55 years 7 France
PubMed c.655G>A intron 1B c.-32-13T>G Childhood or Adult Adult 44 years M 44 years 1 USA
PubMed c.655G>A exon 3 c.655G>A Classic infantile Classic infantile <12 months + 0

The Pompe disease GAA variant database represents an effort to collect all known variants in the GAA gene and is maintained and provide by the Pompe center, Erasmus MC.

We kindly ask you to reference one of the following articles if you use this database for research purposes:

de Faria, DOS, in 't Groen, SLM, Bergsma, AJ, et al. Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening.
Human Mutation. 2021; 42: 119-134. https://doi.org/10.1002/humu.24148

Niño, MY, in 't Groen, SLM, Hoogeveen-Westerveld, M, et al. Extension of the Pompe mutation database by linking disease‐associated variants to clinical severity. Human Mutation. 2019; 40: 1954–1967. https://doi.org/10.1002/humu.23854

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