Pompe disease GAA variant database
  2. List of variants
  3. Reported patients [Lookup other mutation]
Back to VariantsVariants [105]
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 2 c.525del r.(525del) p.(Glu176Argfs*45) Deletion Deletion Frameshift MAF is less than 1% rs386834235   no protein on western blot no effect on splicing - causes an out of frame product no endogeneous protein on western blot protein is not expressed 105 Very severe Classic infantile Negative
Displaying 1 - 50 of 114
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.525del exon 2 c.172C>T Classic infantile Classic infantile at birth M died at 14 months + + 1 Caucasian
PubMed c.525del exon 2 c.307T>G Classic infantile Classic infantile <1 year <1.5 years + 1 Australian
PubMed c.525del exon 11 c.1634C>T Childhood or Adult Childhood first decade of life F died at 18 years + + 1 Netherlands
PubMed c.525del exon 2 c.525del Classic infantile Classic infantile unknown (5) unknown (5) 5 Netherlands
PubMed c.525del intron 17 c.2481+102_2646+31del Classic infantile Classic infantile unknown (4) unknown (4) 4 Netherlands
PubMed c.525del exon 3 c.670C>T Classic infantile or Childhood Childhood 8 months M died at 3 years moderate left ventricular non-obstructive hypertrophy/ cardiac arhythmia + 1 Italy
PubMed c.525del exon 13 c.1826dup Classic infantile Classic infantile <1 year <1.5 years + 1 Netherlands
PubMed c.525del exon 12 c.1735G>A Classic infantile Classic infantile <1 year <1.5 years + 1 Australian
PubMed c.525del exon 11 c.1556T>C Classic infantile Classic infantile <1 year <1.5 years + 1 Netherlands
PubMed c.525del exon 13 c.1798C>T Classic infantile Childhood <1 year M died at 14 years + at 1y 1 Netherlands
PubMed c.525del exon 2 c.546G>A Adult Adult 65 years 68 years 1 UK
PubMed c.525del intron 1B c.-32-13T>G Childhood or Adult Childhood (1)/ Adult (2) unknown (3) F/ F/ M unknown (3) 3 Italy
PubMed c.525del intron 1B c.-32-13T>G Childhood or Adult Childhood (1)/ Adult (1) 10 years/adulthood unknown (2) 2 Caucasian (1)/Anglo-Canadian (1)
PubMed c.525del exon 2 c.525del Classic infantile Classic infantile <5 months/<2 months F/ F unknown (2) +/+ 2 Italy
PubMed c.525del exon 3 c.670C>T Classic infantile or Childhood Classic infantile unknown F unknown + 1 Italy
PubMed c.525del exon 16 c.2237G>A Classic infantile Classic infantile <6 months F unknown + 1 Italy
PubMed c.525del exon 14 c.1927G>A Classic infantile Classic infantile <5 months M unknown + 1 Italy
PubMed c.525del intron 9 c.1437+2T>C Classic infantile Classic infantile <12 months M unknown + 1 Italy
PubMed c.525del intron 1B c.-32-13T>G Childhood or Adult Adult 30 years 48 years + + 1 Germany
PubMed c.525del intron 1B c.-32-13T>G Childhood or Adult Childhood 14 years M 27 years - + 1 Brazil
PubMed c.525del exon 14 c.1927G>A Classic infantile Classic infantile 27 days M 1 month + + - 1 USA
PubMed c.525del intron 1B c.-32-13T>G Childhood or Adult 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.525del exon 5 c.925G>A Classic infantile Classic infantile unknown (2) unknown (2) 2 Netherlands
PubMed c.525del exon 7 c.1115A>T Classic infantile Classic infantile <7 months F <10 months + + + 1 Netherlands
PubMed c.525del exon 2 c.525del Classic infantile Classic infantile <2.5 months F <10 months + 1 Netherlands
PubMed c.525del exon 10 c.1478C>T Adult Adult 36 years 57 years - + 7h/d + + - 1 Germany
PubMed c.525del exon 10 c.1548G>A Classic infantile Classic infantile <3 months M 15 weeks + 1 Caucasian
PubMed c.525del exon 13 c.1802C>A Classic infantile Classic infantile <4 months F unknown + 1 UK
PubMed c.525del exon 18 c.2560C>T Classic infantile Classic infantile <10 days F 12 days + + + 1 African American
PubMed c.525del intron 1B c.-32-13T>G Childhood or Adult Childhood 12 years F 29 years - - - - - + 1 Colombia
PubMed c.525del exon 8 c.1209C>G Classic infantile Classic infantile <3 months 3 months + supplemental oxygen 1 Netherlands
PubMed c.525del exon 3 c.671G>C Unknown (disease-associated) Adult 26 years M 46 years + + + + 1 Caucasian
PubMed c.525del exon 16 c.2210C>A Classic infantile Classic infantile <1 year <1 year + 1 USA
PubMed c.525del intron 1B c.-32-13T>G Childhood or Adult Childhood or Adult ranging 10 to 35 years 5 France
PubMed c.525del intron 6 c.1076-22T>G Childhood Childhood 3,5 years M 5 years 1 Austria
PubMed c.525del intron 1B c.-32-13T>G Childhood or Adult Adult 22/70/34/46/28 years 59/76/35/61/58 years -/+/+/+/- 5 Italy
PubMed c.525del exon 13/ exon 12 c.[1880C>T; c.1642G>T] Classic infantile/ Unknown (disease-associated) Childhood NBS M NBS 1 USA
PubMed c.525del intron 1B c.-32-13T>G Childhood or Adult Adult 34 years F 39 years 1 USA
PubMed c.525del intron 17 c.2481+102_2646+31del Classic infantile Classic infantile <1 year 2 USA
PubMed c.525del exon 13 c.1799G>T Classic infantile Classic infantile <1 year 1 USA
PubMed c.525del exon 13 c.1880C>T Classic infantile or Childhood Classic infantile <1 year 1 USA
PubMed c.525del exon 12 c.1655T>C Classic infantile Classic infantile <1 year 1 USA
PubMed c.525del intron 1B c.-32-13T>G Childhood or Adult Classic infantile <1 year 1 USA
PubMed c.525del intron 1B c.-32-13T>G Childhood or Adult Childhood or Adult Adult 4 USA
PubMed c.525del intron 1B c.-32-13T>G Childhood or Adult Childhood NA/ 10 years F/F 12 years/21 years 2 France
PubMed c.525del exon 2 c.517_519del Childhood Childhood 16 years M 41 years 1 France
PubMed c.525del intron 1B c.-32-13T>G Childhood or Adult Adult ranging 18 to 56 years F/F/M/M/F 33/56/80/18/56 years 5 USA
PubMed c.525del exon 13 c.1781G>C Childhood or adult Childhood or Adult 1 USA
PubMed c.525del intron 1B c.-32-13T>G Childhood or Adult Childhood or Adult 3 USA
PubMed c.525del exon 3 c.670C>T Classic infantile or Childhood Classic infantile 1 months F 9 months + Tracheostomy + 1 Italy

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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