Pompe disease GAA variant database
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 intron 1B c.-32-13T>G r.[=,-32_546del,-32_486del] p.[=,0] Substitution Substitution/ Splicing (intron variant) Deletion (translation initiation site) MAF is less than 1% rs386834236 causes partial and complete skipping of exon 2 no effect on splicing detection of leaky wildtype splicing protein is expressed 30 Potentially mild Childhood or Adult Positive
Displaying 1 - 50 of 525
  • Print
Link to
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.-32-13T>G intron 1B c.-32-13T>G Childhood or Adult Adult 35 years F 48 years - - + (Walton
score: III) 		- 1 Portugal
PubMed c.-32-13T>G intron 1B c.-32-13T>G Childhood or Adult Adult 38 years F 47 years - - - - + 1 Colombia
PubMed c.-32-13T>G intron 1B c.-32-13T>G Childhood or Adult asymptomatic asymptomatic F 68 years - - - - - - + - - - 1 France
PubMed c.-32-13T>G intron 1B c.-32-13T>G Childhood or Adult Childhood 13 years M 13 years FVC in sitting/ supine position 82/75% - - 1 Germany
PubMed c.-32-13T>G intron 1B c.-32-13T>G Childhood or Adult Adult 20 years M 25 years - - - + 1 Italy
PubMed c.-32-13T>G intron 1B c.-32-13T>G Childhood or Adult Adult (1)/ Childhood (1) 48 years/6 years 49 years/8 years -/- -/- -/- -/- -/- 2 Germany
PubMed c.-32-13T>G intron 1B c.-32-13T>G Childhood or Adult Adult (2) 49 years/40 years M/M 51 years/42 years -/slight left
ventricular hypertrophy 		-/- -/- -/- -/- -/- 2 Italy
PubMed c.-32-13T>G intron 1B c.-32-13T>G Childhood or Adult Adult 25 years F unknown - + 11h/night + + + + 1 Germany
PubMed c.-32-13T>G intron 1B c.-32-13T>G Childhood or Adult Adult 48 years M unknown - + 7h/night + - - + 1 Germany
PubMed c.-32-13T>G intron 1B c.-32-13T>G Childhood or Adult Adult 58 years M unknown - - - - - - 1 Germany
PubMed c.-32-13T>G intron 1B c.-32-13T>G Childhood or Adult Adult 42 years F unknown - - - - - - 1 Germany
PubMed c.-32-13T>G intron 1B c.-32-13T>G Childhood or Adult Adult 47 years M 49 years + + - - 1 Caucasian
PubMed c.-32-13T>G intron 1B c.-32-13T>G Childhood or Adult Adult 39 years F 41 years - 1 Germany
PubMed c.-32-13T>G intron 1B c.-32-13T>G Childhood or Adult unknown (2) Presymptomatic F/F 34y/prenatally diagnosed -/- -/- -/- -/- -/- -/- -/- -/- -/- -/- 2 USA
PubMed c.-32-13T>G exon 2 c.25del Unknown (disease-associated) Adult 20 years M 48 years - + 1 Italy
PubMed c.-32-13T>G exon 2 c.118C>T Classic infantile Adult 49 years F 64 years - - + - 1 France
PubMed c.-32-13T>G exon 2 c.118C>T Classic infantile Adult 40 years F 69 years - + at night - - + + 1 France
PubMed c.-32-13T>G exon 2 c.258dup Unknown (disease-associated) Adult unknown M unknown 1 Italy
PubMed c.-32-13T>G exon 2 c.271del Unknown (disease-associated) Adult 37 years 49 years - - 1 Germany
PubMed c.-32-13T>G exon 2 c.307T>G Classic infantile Childhood 2 years F 3 years - + + - + 1 Caucasian
PubMed c.-32-13T>G exon 2 c.307T>G Classic infantile Adult 43 years/20 years/55 years 47y/43y/65y +/-/- -/+/- +/+/+ 3 Germany
PubMed c.-32-13T>G exon 2 c.307T>G Classic infantile Adult 43 years M 48 years + at night + - - 1 Germany
PubMed c.-32-13T>G exon 2 c.307T>G Classic infantile Childhood 7.5 years M 8 years - 1 Greece
PubMed c.-32-13T>G exon 2 c.377G>A Classic infantile Childhood (1)/ Adult (2) 46 years/20 years/15 years M/ M/ F unknown (3) +/+/- +/+/unknown +/+/+ 3 Italy
PubMed c.-32-13T>G exon 2 c.379_380del Classic infantile Adult 42 years F 43 years arrhythmias - - - 1 Caucasian
PubMed c.-32-13T>G exon 2 c.482_483del Unknown (disease-associated) Adult 34 years F 68 years - - + + - 1 France
PubMed c.-32-13T>G exon 2 c.482_483del Unknown (disease-associated) Adult >19 years F/ F unknown 2 France
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Childhood (1)/ Adult (2) unknown (3) F/ F/ M unknown (3) 3 Italy
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Childhood (1)/ Adult (1) 10 years/adulthood unknown (2) 2 Caucasian (1)/Anglo-Canadian (1)
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Adult 30 years 48 years + + 1 Germany
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Childhood 14 years M 27 years - + 1 Brazil
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Adult (4)/ unknown (2) 20-38 years (4)/ asymptomatic (2) F (3)/ M (3) 32-72 years + (3)/- (3) + (2)/ - (2)/unknown (2) + (2)/- (4) 6 Caucasian
PubMed c.-32-13T>G exon 2 c.525del Classic infantile Childhood 12 years F 29 years - - - - - + 1 Colombia
PubMed c.-32-13T>G exon 2 c.546G>C Unknown (disease-associated) Adult unknown 65 years ischemic cardiopathy + 1 Spain
PubMed c.-32-13T>G intron 2 c.546+1G>T Unknown (disease-associated) Adult 41 years/42 years F/ F 42 years/47 years -/- 2 Italy
PubMed c.-32-13T>G exon 3 c.623T>C Unknown (disease-associated) Adult 29 years M 34 years - - + + 1 South America
PubMed c.-32-13T>G exon 3 c.634G>T Unknown (disease-associated) Childhood 10 years F 15 years - 1 Brazil
PubMed c.-32-13T>G exon 3 c.655G>A Classic infantile Adult 34 years M 62 years + + + 1 France
PubMed c.-32-13T>G exon 3 c.655G>A Classic infantile asymptomatic asymptomatic M 2 years Bilateral calf hypertrophy 1 France
PubMed c.-32-13T>G intron 3 c.692+1G>C Unknown (disease-associated) Childhood or Adult unknown F 26 years 1 Italy
PubMed c.-32-13T>G exon 4 c.719T>C Adult Adult 25 years M 33 years - - - - - - 1 France
PubMed c.-32-13T>G exon 4 c.737T>G Unknown (disease-associated) unknown unknown M 9 years 1 Italy
PubMed c.-32-13T>G exon 4 c.743T>G Unknown (disease-associated) Adult 43 years M 53 years - - - - - - 1 France
PubMed c.-32-13T>G exon 4 c.784G>A Classic infantile Adult 30 years F 72 years - + 1 Caucasian
PubMed c.-32-13T>G exon 4 c.794del Classic infantile Adult 35 years 37 years - + 1 Germany
PubMed c.-32-13T>G exon 4 c.836G>A Unknown (disease-associated) Adult 26 years M 40 years + at night + + + 1 Argentina
PubMed c.-32-13T>G exon 4 c.844G>C Unknown (disease-associated) Adult 34-39 years M 64 years + + + + + 1 Caucasian
PubMed c.-32-13T>G exon 5 c.875A>G Classic infantile Adult unknown 60 years + 1 Spain
PubMed c.-32-13T>G exon 5 c.877G>A Classic infantile Adult 48 years 46 years 1 Italy
PubMed c.-32-13T>G exon 5 c.877G>A Classic infantile Adult 20 years/55 years 42 years/53 years +/+ 2 Germany

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

www.pompecenter.nl