Pompe disease GAA variant database
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Variants [463]

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 10 c.1548G>A r.(1548g>a) p.(Trp516*) Substitution Substitution Substitution (nonsense) MAF is less than 1% rs140826989 no protein on western blot no effect on splicing no endogeneous protein on western blot protein is not expressed 463 Very severe Classic infantile Negative
Displaying 1 - 18 of 18
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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.1548G>A intron 1B c.-32-13T>G Childhood or Adult Childhood 10 years unknown 1 Netherlands
PubMed c.1548G>A second mutation is not reported Classic infantile 5.5 months F 30 months + - - 1 Caucasian
PubMed c.1548G>A exon 2 c.525del Classic infantile Classic infantile <3 months M 15 weeks + 1 Caucasian
PubMed c.1548G>A intron 1B c.-32-13T>G Childhood or Adult Adult 48 years F 48 years - - 1 USA
PubMed c.1548G>A intron 19 c.2799+4A>G Adult Adult 32 years F 53 years - - + 1 unknown
PubMed c.1548G>A intron 1B c.-32-13T>G Childhood or Adult Childhood or Adult Adult 2 USA
PubMed c.1548G>A exon 10 c.1470C>A Childhood Childhood 6 years M 6,5 years + 1 Austria
PubMed c.1548G>A intron 1B c.-32-13T>G Childhood or Adult Childhood or Adult ranging 12 to 40 years 5 France
PubMed c.1548G>A intron 1B c.-32-13T>G Childhood or Adult Childhood 12 years F 51 years 1 France
PubMed c.1548G>A intron 1B c.-32-13T>G Childhood or Adult Childhood or Adult 1 USA
PubMed c.1548G>A intron 1B c.-32-13T>G Childhood or Adult Adult 44 male 63 + + 1 Dutch
PubMed c.1548G>A intron 1B c.-32-13T>G Childhood or Adult Adult 31 male 43 + + + 1 Dutch
PubMed c.1548G>A intron 1B c.-32-13T>G Childhood or Adult Adult 62 female 72 + 1 Dutch
PubMed c.1548G>A intron 1B c.[-32-13T>G; c.510C>T] Childhood or Adult Childhood 7 9.4647501711157 1 Unknown
PubMed c.1548G>A intron 1B c.-32-13T>G Childhood or Adult Adult 49 50 1 Unknown
PubMed c.1548G>A intron 1B c.-32-13T>G Childhood or Adult Adult 29 39 1 Unknown
PubMed c.1548G>A intron 1B c.-32-13T>G Childhood or Adult Adult 22 24 1 Unknown
PubMed c.1548G>A intron 1B c.-32-13T>G Childhood or Adult Adult 30 38 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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