Pompe disease GAA variant database
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Variants [641]

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 14 c.1927G>A r.[1927g>a, 1755_1928del, 1889_1928del] p.[Gly643Arg, Leu587_Ala644del, Glu630Gly*53] Substitution Substitution/ Splicing (exon variant) Substitution (missense) MAF is less than 1% rs28937909 causes partial skipping of exon 14 new cryptic splice acceptor unknown 641 Potentially less severe Classic infantile Unknown Disease causing (p-value: 1) Deleterious (score: 0) Class C65 (GV: 0.00 - GD: 125.13)
Displaying 1 - 27 of 27
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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.1927G>A intron 1B c.-32-13T>G Childhood or Adult Adult 34 years F 52 years - + + + - 1 France
PubMed c.1927G>A exon 2 c.236_246del Classic infantile Classic infantile 1 month M 6 months + + 1 Brazil
PubMed c.1927G>A exon 2 c.525del Classic infantile Classic infantile <5 months M unknown + 1 Italy
PubMed c.1927G>A exon 2 c.525del Classic infantile Classic infantile 27 days M 1 month + + - 1 USA
PubMed c.1927G>A exon 6 c.1064T>C Classic infantile or Childhood Classic infantile <4 months M 4 months + 1 Italy
PubMed c.1927G>A exon 13 c.1856G>A Childhood or Adult Adult 61 years F 68 years - 1 Italy
PubMed c.1927G>A exon 15 c.2173C>T Childhood or Adult Adult 22 years F 35 years - + at night + - + 1 UK
PubMed c.1927G>A second mutation is not reported Classic infantile shortly after birth <1 year + 1 Turkey
PubMed c.1927G>A intron 1B c.-32-13T>G Childhood or Adult Childhood <10 years F unknown 1 Italy
PubMed c.1927G>A exon 14 c.2040G>A Childhood Childhood at birth M 13 years + + + + 1 Caucasian
PubMed c.1927G>A exon 14 c.1927G>A Classic infantile Classic infantile unknown M unknown + 1 Italy
PubMed c.1927G>A intron 1B c.-32-13T>G Childhood or Adult Adult 48 years 68 years + 1 Germany
PubMed c.1927G>A intron 1B c.-32-13T>G Childhood or Adult Childhood 8 years/10 years/10 years M/ F/ M 23y/36y/33y -/-/- 3 Brazil
PubMed c.1927G>A intron 1B c.-32-13T>G Childhood or Adult Adult 25 years F 38 years - + at night - + + 1 Caucasian
PubMed c.1927G>A exon 14 c.2040G>A Childhood Childhood 11 months M 17 years + + + + 1 Canada
PubMed c.1927G>A exon 7 c.1101G>A Classic infantile Classic infantile unknown unknown 1 Italy
PubMed c.1927G>A exon 19 c.2662G>T Classic infantile Classic infantile ~3.4 months F ~4.9 months + + 1 Northern China
PubMed c.1927G>A intron 1B c.-32-13T>G Childhood or Adult Adult adult 63 - 1 Italy
PubMed c.1927G>A intron 1B c.-32-13T>G Childhood or Adult Adult 56 years F 64 years - Bent spine syndrome 1 France
PubMed c.1927G>A intron 1B c.-32-13T>G Childhood or Adult Childhood 14 years 35 years - 1 Italy
PubMed c.1927G>A exon 14 c.1927G>A Classic infantile Classic infantile 1d F 1 day + + + + 1 Saudi Arabia
PubMed c.1927G>A intron 1B c.-32-13T>G Childhood or Adult Childhood 15 years/ NA F/M 37/7 years 2 France
PubMed c.1927G>A exon 2 c.236_246del Classic infantile Classic infantile 6 months F 11 months + Tracheostomy + + (no sitting position) 1 Italy
PubMed c.1927G>A exon 5 c.930_932del Classic infantile Classic infantile birth F 19 days + Tracheostomy + 1 Italy
PubMed c.1927G>A exon 14 c.1927G>A Classic infantile Classic infantile 4 months F 4 months + Tracheostomy + 1 Italy
PubMed c.1927G>A intron 1B c.-32-13T>G Childhood or Adult Childhood or Adult ranging 15 to 60 years 5 France
c.1927G>A exon 10 c.1464dup Classic infantile Classic infantile <1 year died + 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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