Pompe disease GAA variant database
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Variants [525]

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 12 c.1655T>C r.(1655u>c) p.(Leu552Pro) Substitution Substitution Substitution (missense) MAF is less than 1% rs779556619 0% residual activity in GAA expression construct no effect on splicing protein is expressed 525 Potentially less severe Classic infantile Positive Disease causing (p-value: 1) Deleterious (score: 0) Class C0 (GV: 234.72 - GD: 50.17)
Displaying 1 - 36 of 36
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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.1655T>C intron 1B c.-32-3C>A Childhood Classic infantile <6 months M unknown + 1 Italy
PubMed c.1655T>C exon 2 c.377G>A Classic infantile Childhood 2 years F 10 years - + 1 Brazil
PubMed c.1655T>C exon 2 c.377G>A Classic infantile Childhood 14 years/5 years 20 years/11 years valvular myopathy (2) +/+ 2 Brazil
PubMed c.1655T>C exon 4 c.854C>G Childhood Childhood 1 year M 2.5 years + + + + 1 Germany
PubMed c.1655T>C exon 6 c.989G>A Unknown (disease-associated) Childhood 5-6 months/5-6 months M/ F died at 3 years (2) moderate left ventricular non-obstructive hypertophy (2) +/+ +/+ +/+ 2 Italy
PubMed c.1655T>C exon 9 c.1333G>C Childhood Childhood 3 years F 16 years + + + + 1 Italy
PubMed c.1655T>C exon 10 c.1478C>T Adult Adult 27 years F 34 years - 1 Germany
PubMed c.1655T>C intron 14 c.2041-2A>C Classic infantile Classic infantile <1 year <1.5 years + 1 Germany
PubMed c.1655T>C exon 18 c.2600_2604delinsA Classic infantile or Childhood unknown 6 months unknown 1 Spain
PubMed c.1655T>C intron 1B c.-32-13T>G Childhood or Adult Childhood 6 years unknown 1 Spain
PubMed c.1655T>C exon 12 c.1655T>C Classic infantile Classic infantile <2 months F unknown + 1 Italy
PubMed c.1655T>C exon 16 c.2237G>A Classic infantile Classic infantile <2 months M unknown + 1 Italy
PubMed c.1655T>C exon 17 c.2432del Classic infantile Classic infantile <8 months M unknown + 1 Italy
PubMed c.1655T>C intron 1B c.-32-13T>G Childhood or Adult Adult 20 years M 38 years + + 1 Germany
PubMed c.1655T>C exon 14 c.1941C>G Classic infantile Classic infantile at birth M 12 months + + 1 Brazil
PubMed c.1655T>C exon 12 c.1655T>C Classic infantile Childhood 18 months M 21 months - + + 1 Brazil
PubMed c.1655T>C intron 1B c.-32-13T>G Childhood or Adult Adult 35 years F 45 years 1 Germany
PubMed c.1655T>C intron 1B c.-32-13T>G Childhood or Adult Childhood or Adult unknown F 29 years 1 Italy
PubMed c.1655T>C exon 12 c.1704C>G Adult Adult 22 years F 25 years - - - 1 Caucasian
PubMed c.1655T>C exon 13 c.1856G>A Childhood or Adult Childhood 8-18 months F 23 months - + + 1 Greece
PubMed c.1655T>C intron 9 c.1438-1G>C Classic infantile Classic infantile <1 year 1 USA
PubMed c.1655T>C exon 2 c.525del Classic infantile Classic infantile <1 year 1 USA
PubMed c.1655T>C exon 12 c.1655T>C Classic infantile Childhood Juvenile 1 USA
PubMed c.1655T>C intron 1B c.-32-13T>G Childhood or Adult Childhood or Adult Adult 1 USA
PubMed c.1655T>C exon 12 c.1655T>C Classic infantile Childhood asymptomatic M/M 2/1 2 Turkey
PubMed c.1655T>C intron 1B c.-32-13T>G Childhood or Adult Adult 56 years F 66 years - Bent spine syndrome 1 France
PubMed c.1655T>C exon 2 c.525_526del Classic infantile Classic infantile 0-19 months F 19 months 1 Germany
PubMed c.1655T>C intron 1B c.-32-13T>G Childhood or Adult Childhood or Adult ranging 3 to 50 years 4 France
PubMed c.1655T>C exon 12 c.1655T>C Classic infantile Childhood 3 years F 4 years 1 France
PubMed c.1655T>C intron 1B c.-32-13T>G Childhood or Adult Adult M 59 years 1 USA
PubMed c.1655T>C intron 1B c.-32-13T>G Childhood or Adult Adult F 49 years 1 USA
PubMed c.1655T>C exon 2 c.236_246del Classic infantile Classic infantile 2 months M 3 months + - 1 Italy
PubMed c.1655T>C exon 16 c.2237G>A Classic infantile Classic infantile 2 months M 4 months + Tracheostomy + 1 Italy
PubMed c.1655T>C exon 16 c.2238G>C Childhood or Adult Childhood 9 years M 11 y + + (BiPAP) + + (assistive device) + 1 Caucasian
PubMed c.1655T>C exon 2 c.236_246del Classic infantile Classic infantile 0 months M 3m + 1 Italy
PubMed c.1655T>C intron 1B c.-32-13T>G Childhood or Adult Adult 34 36 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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