Pompe disease GAA variant database
Back to Master table

Variants [838]

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 17 c.2481+102_2646+31del r.2482_2646del p.(Gly828_Asn882del) Deletion Deletion Deletion MAF not reported causes an in frame skip of exon 18 no effect on splicing - causes an in frame skip of exon 18 endogenous protein on western blot protein is expressed 838 Very severe Classic infantile Positive
Displaying 1 - 50 of 67
  • 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.2481+102_2646+31del intron 1B c.-32-13T>G Childhood or Adult Adult 39 years F 42 years + 1 Germany
PubMed c.2481+102_2646+31del intron 1B c.-32-13T>G Childhood or Adult Adult unknown (2) unknown (2) 2 unknown
PubMed c.2481+102_2646+31del intron 1B c.-32-2A>G Childhood or Adult Childhood (1)/ Adult (2) 20 years/19 years/17 years F/ M/ M 33y/35y/36y -/-/- -/-/- -/-/- -/-/- -/-/- +/+/+ 3 Colombia
PubMed c.2481+102_2646+31del exon 2 c.379_380del Classic infantile Classic infantile unknown F unknown + 1 Netherlands
PubMed c.2481+102_2646+31del exon 2 c.525del Classic infantile Classic infantile unknown (4) unknown (4) 4 Netherlands
PubMed c.2481+102_2646+31del exon 3 c.650C>T Classic infantile Classic infantile at birth M 2 months + + 1 Brazil
PubMed c.2481+102_2646+31del exon 5 c.877G>A Classic infantile Classic infantile <4 months M unknown + 1 Italy
PubMed c.2481+102_2646+31del exon 5 c.896T>G Classic infantile Classic infantile unknown unknown 1 unknown
PubMed c.2481+102_2646+31del exon 5 c.925G>A Classic infantile Classic infantile unknown (3) unknown (3) 3 Netherlands
PubMed c.2481+102_2646+31del exon 8 c.1202A>G Classic infantile Classic infantile <3 months F unknown + 1 Italy
PubMed c.2481+102_2646+31del exon 13 c.1799G>A Classic infantile Classic infantile <3 months M <10 months + - 1 Netherlands
PubMed c.2481+102_2646+31del exon 15 c.2104C>T Classic infantile Classic infantile 3 months F 3-6 months + 1 Italy
PubMed c.2481+102_2646+31del exon 14 c.1941C>G Classic infantile Classic infantile <4 months F died + + 1 French-Canadian
PubMed c.2481+102_2646+31del exon 16 c.2237G>A Classic infantile Classic infantile 15 days M died at 1 year + - 1 Italy
PubMed c.2481+102_2646+31del intron 17 c.2481+102_2646+31del Classic infantile Classic infantile unknown (2) unknown (2) + 2 Caucasian
PubMed c.2481+102_2646+31del second mutation is not reported Adult 55 years F 65 years 1 France
PubMed c.2481+102_2646+31del exon 18 c.2639C>A Classic infantile Classic infantile <1 year <1.5 years + 1 Netherlands
PubMed c.2481+102_2646+31del intron 1B c.-32-13T>G Childhood or Adult Childhood (1)/ Childhood or Adult (1) <3 years/unknown M/ M unknown (2) 2 Italy
PubMed c.2481+102_2646+31del intron 1B c.-32-13T>G Childhood or Adult Adult 20 years/adulthood unknown 2 Caucasian (1)/Anglo-Canadian (1)
PubMed c.2481+102_2646+31del intron 18 c.2646+2T>A Classic infantile Classic infantile 4 months unknown + + 1 Spain
PubMed c.2481+102_2646+31del intron 17 c.2481+102_2646+31del Classic infantile Classic infantile 10 months F unknown + 1 Italy
PubMed c.2481+102_2646+31del intron 1B c.-32-13T>G Childhood or Adult Childhood (1)/ Adult (2) childhood/42 years/26 years 30y/57y/29/y -/-/+ 3 Germany
PubMed c.2481+102_2646+31del intron 17 c.2481+102_2646+31del Classic infantile Classic infantile at birth F 6 months + + 1 Brazil
PubMed c.2481+102_2646+31del exon 18 c.2560C>T Classic infantile Classic infantile at birth M 5 months + + 1 Brazil
PubMed c.2481+102_2646+31del intron 1B c.-32-13T>G Childhood or Adult Adult 32 years/30 years M/ M 53 years/60 years -/- -/- +/+ 2 France
PubMed c.2481+102_2646+31del exon 19 c.2707_2709del Classic infantile Classic infantile unknown M died 1 Dutch
PubMed c.2481+102_2646+31del intron 1B c.-32-13T>G Childhood or Adult Adult M/M/F/M/F 66/70/44/18/61 years 5 USA
PubMed c.2481+102_2646+31del intron 17 c.2481+102_2646+31del Classic infantile Classic infantile 6 months F 8 months + - 1 Italy
PubMed c.2481+102_2646+31del intron 17 c.2481+102_2646+31del Classic infantile Classic infantile 6 months F 8 months + - 1 Italy
PubMed c.2481+102_2646+31del exon 13 c.1859C>A Unknown (disease-associated) Classic infantile 0-2 months F 2 months 1 Germany
PubMed c.2481+102_2646+31del intron 1B c.-32-13T>G Childhood or Adult Adult 35 years/22 years 41 years/48 years -/- 2 Italy
PubMed c.2481+102_2646+31del exon 16 c.2213G>A Classic infantile Classic infantile 0-2 months M 2 months 1 Germany
PubMed c.2481+102_2646+31del intron 1B c.-32-13T>G Childhood or Adult Childhood 0-49 months/ 0-4 months M/F 49 months/4 months 2 Germany
PubMed c.2481+102_2646+31del exon 2 c.437del Classic infantile Classic infantile <1 year 1 USA
PubMed c.2481+102_2646+31del exon 8 c.1210G>A Classic infantile Classic infantile <1 year 1 USA
PubMed c.2481+102_2646+31del exon 14 c.1912G>T Classic infantile Classic infantile <1 year 1 USA
PubMed c.2481+102_2646+31del exon 2 c.525del Classic infantile Classic infantile <1 year 2 USA
PubMed c.2481+102_2646+31del intron 17 c.2481+102_2646+31del Classic infantile Classic infantile <1 year 1 USA
PubMed c.2481+102_2646+31del intron 1B c.-32-13T>G Childhood or Adult Childhood or Adult Adult 5 USA
PubMed c.2481+102_2646+31del intron 1B c.-32-13T>G Childhood or Adult Childhood or Adult ranging 7 to 69 years 24 France
PubMed c.2481+102_2646+31del intron 1B c.-32-13T>G Childhood or Adult Childhood or Adult 2 USA
PubMed c.2481+102_2646+31del intron 1B c.-32-13T>G Childhood or Adult Adult 36 years F 48 years non invasive ventilation at night + + + 1 USA
PubMed c.2481+102_2646+31del intron 1B c.-32-13T>G Childhood or Adult Childhood 2 years/ 9 years M/F 14 years/ 7 years 2 France
PubMed c.2481+102_2646+31del exon 10 c.1441T>C Classic infantile Classic infantile 0 months M 0 months + + 1 USA
PubMed c.2481+102_2646+31del intron 1B c.-32-13T>G Childhood or Adult Childhood 10 months M 18 months - 1 Austria
PubMed c.2481+102_2646+31del intron 17 c.2481+102_2646+31del Classic infantile Classic infantile <12 months + 0
PubMed c.2481+102_2646+31del intron 17 c.2481+102_2646+31del Classic infantile Childhood or Adult >12 years N.A. 1
PubMed c.2481+102_2646+31del intron 17 c.2481+102_2646+31del Classic infantile Classic infantile at birth F 2.4 m + - tachypnea severe hypotonia and a prominent head lag 1 Cacasian
PubMed c.2481+102_2646+31del intron 1B c.-32-13T>G Childhood or Adult Adult 30 Female 30 + + + 1 Dutch
PubMed c.2481+102_2646+31del intron 1B c.-32-13T>G Childhood or Adult Adult 41 male 38 + + 1 Dutch

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