Pompe disease GAA variant database
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Variants [239]

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 5 c.925G>A r.(925g>a) p.(Gly309Arg) Substitution Substitution Substitution (missense) MAF is less than 1% rs543300039 affects processing in expression study new weak cryptic splice acceptor endogenous protein on western blot unknown 239 Potentially less severe Classic infantile Positive Disease causing (p-value: 1) Deleterious (score: 0.01) Class C25 (GV: 55.27 - GD: 95.76)
Displaying 1 - 22 of 22
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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.925G>A GAA and part of CCDC40 Ch37/hg19:g.78,056,048_ 78,094,854delins14bp Classic infantile Classic infantile 6 months M died at 17 months + + 1 Spain
PubMed c.925G>A exon 2 c.525del Classic infantile Classic infantile unknown (2) unknown (2) 2 Netherlands
PubMed c.925G>A intron 17 c.2481+102_2646+31del Classic infantile Classic infantile unknown (3) unknown (3) 3 Netherlands
PubMed c.925G>A intron 1B c.-32-13T>G Childhood or Adult Adult unknown unknown 1 Netherlands
PubMed c.925G>A intron 1B c.-32-13T>G Childhood or Adult Adult unknown F unknown 1 Italy
PubMed c.925G>A intron 1B c.-32-13T>G Childhood or Adult Childhood 2 years and 6 months unknown 1 Spain
PubMed c.925G>A exon 5 c.925G>A Classic infantile Classic infantile <1.5 month M 33 months + 1 Hispanic
PubMed c.925G>A exon 16 c.2269C>T Classic infantile Classic infantile 4 months F 4 years,4 months + 1 Croatia
PubMed c.925G>A intron 1B c.-32-13T>G Childhood or Adult Adult 52 years F 66 years + 1 Greece
PubMed c.925G>A exon 5 c.861C>T Childhood Childhood unknown unknown 1 Netherlands
PubMed c.925G>A intron 1B c.-32-13T>G Childhood or Adult Childhood or Adult Adult 2 USA
PubMed c.925G>A intron 1B c.-32-13T>G Childhood or Adult Childhood 3,5 years M 10 years 1 Poland
PubMed c.925G>A exon 5 c.925G>A / mosaic Classic infantile mosaic 1 year 0-4 years left ventricular hyperthrophy - - 1 Netherlands
PubMed c.925G>A exon 5 c.925G>A Classic infantile Classic infantile <12 months + 0
PubMed c.925G>A intron 1B c.-32-13T>G Childhood or Adult Childhood /Adult (2) 10 years/20s years/32 years M/F/M 33 y/31 y/38 y -/-/- + (non-invasive ventilation)/BiPAP/BiPAP +/+/+ +/-/- +/+ walker/assistive device -/+/- 3 Caucasian
PubMed c.925G>A intron 1B c.-32-13T>G Childhood or Adult Adult 46 female 52 1 Dutch
PubMed c.925G>A intron 1B c.-32-13T>G Childhood or Adult Adult 21 female 42 + + 1 Dutch
PubMed c.925G>A intron 1B c.-32-13T>G Childhood or Adult Adult 31 male 39 + + 1 Dutch
PubMed c.925G>A intron 1B c.-32-13T>G Childhood or Adult Adult 49 female 54 + + 1 Dutch
PubMed c.925G>A intron 1B c.-32-13T>G Childhood or Adult Adult 62 female 63 + 1 Dutch
PubMed c.925G>A intron 1B c.-32-13T>G Childhood or Adult Adult 43 44 1 Unknown
PubMed c.925G>A intron 1B c.-32-13T>G Childhood or Adult Adult 38 49 1 Unknown

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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