Pompe disease GAA variant database
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Variants [645]

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.1933G>A r.(1933g>a) p.(Asp645Asn) Substitution Substitution Substitution (missense) MAF is less than 1% rs368438393 <1% residual acitivty and affects processing in expression study no effect on splicing endogenous protein on western blot protein is expressed 645 Potentially less severe Classic infantile Positive Disease causing (p-value: 1) Deleterious (score: 0) Class C15 (GV: 0.00 - GD: 23.01)
Displaying 1 - 19 of 19
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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.1933G>A exon 11 c.1564C>G Classic infantile Classic infantile <12 months F unknown + 1 Italy
PubMed c.1933G>A exon 13 c.1799G>T Classic infantile unknown <1 year unknown 1 French-Canadian/ Irish
PubMed c.1933G>A exon 16 c.2242dup Classic infantile Classic infantile unknown unknown 1 Celtic
PubMed c.1933G>A exon 19 c.2702T>A Childhood Childhood 8 months M 6 years + mild LVH - + + 1 Germany
PubMed c.1933G>A exon 14 c.1933G>A Classic infantile Classic infantile 0.4 months M 3.1 months + - - 1 Asian Indian
PubMed c.1933G>A exon 14 c.1933G>A Classic infantile Classic infantile <1 year unknown 1 Indian
PubMed c.1933G>A exon 14 c.1933G>A Classic infantile Classic infantile at birth F 2 days + 1 Italy
PubMed c.1933G>A exon 18 c.2501_2502del Classic infantile Classic infantile <2.5 months M 3 months + - - 1 Hispanic
PubMed c.1933G>A exon 14 c.1933G>A Classic infantile Classic infantile 1 year and 3 months M died at 2 years + - 1 Italy
PubMed c.1933G>A exon 14 c.1933G>A Classic infantile Classic infantile <1 year 2 USA
PubMed c.1933G>A exon 14 c.1933G>A Classic infantile Classic infantile <1 year 2 USA
PubMed c.1933G>A exon 4 c.794del Classic infantile Classic infantile at birth 1 month + 1 Germany
PubMed c.1933G>A exon 4 c.794del Classic infantile Classic infantile 0-1.5 months F 1.5 months + motor delay 1m 1 Germany
PubMed c.1933G>A exon 18 c.2584G>A Childhood Childhood 5 years F 5 years 1 France
PubMed c.1933G>A exon 14 c.1933G>A Classic infantile Classic infantile birth F 1 month + - moderate periventricular white matter abnormalities 1 Italy
PubMed c.1933G>A exon 11 c.1564C>G Classic infantile Classic infantile 2 months F 3 months + - 1 Italy
PubMed c.1933G>A exon 14 c.1933G>A Classic infantile Classic infantile <12 months + 0
PubMed c.1933G>A exon 14 c.1933G>A Classic infantile Childhood? <12 years + 0
PubMed c.1933G>A intron 1B c.[-32-13T>G; c.510C>T] Childhood or Adult Childhood 13 14.056125941136 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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