Pompe disease GAA variant database
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Variants [194]

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 4 c.784G>A r.(784g>a) p.(Glu262Lys) Substitution Substitution Substitution (missense) MAF is less than 1% rs201896815 no effect on splicing protein is expressed 194 Potentially less severe Classic infantile Positive Disease causing (p-value: 0.998) Deleterious (score: 0.02) Class C15 (GV: 29.27 - GD: 51.63)
Displaying 1 - 18 of 18
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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.784G>A exon 3 c.655G>A Classic infantile Classic infantile 2.5-4 months F died at 10 months + + 1 Spain
PubMed c.784G>A exon 4 c.784G>A Classic infantile Classic infantile unknown M died at 8 months + 1 Italy
PubMed c.784G>A exon 11 c.1564C>G Classic infantile Classic infantile <5 months F unknown + 1 Italy
PubMed c.784G>A exon 7 c.1124G>T Classic infantile Classic infantile <4 months F unknown + 1 Italy
PubMed c.784G>A exon 11 c.1561G>C Classic infantile Classic infantile at birth M 4 months + + 1 Brazil
PubMed c.784G>A exon 14 c.1935C>A/ Asian pseudodeficiency allele Classic infantile Classic infantile <1 month M NBS + 1 Taiwan
PubMed c.784G>A intron 1B c.-32-13T>G Childhood or Adult Adult 30 years F 72 years - + 1 Caucasian
PubMed c.784G>A exon 9 c.1356del Classic infantile Classic infantile 4.7 months F died at <18.7 months + 1 South China
PubMed c.784G>A exon 9 c.1396del Classic infantile Childhood 2 years and 6 months F died at 4 years + - 1 Italy
PubMed c.784G>A intron 1B c.-32-13T>G Childhood or Adult Childhood or Adult Adult 3 USA
PubMed c.784G>A exon 6 c.1057del Unknown (disease-associated) Classic infantile 2 months F 6 months + + + 1 Austria
PubMed c.784G>A intron 1B c.-32-13T>G Childhood or Adult Adult early adult/adult 49 years/33 years -/- 2 Italy
PubMed c.784G>A intron 1B c.-32-13T>G Childhood or Adult Adult 32 years/35 years 42 years/75 years -/- 2 Italy
PubMed c.784G>A exon 13 c.1802C>T Classic infantile Classic infantile 2 months F 4 months + + + 1 Saudi Arabia
PubMed c.784G>A exon 4 c.784G>A Classic infantile Classic infantile 1 months M 1,5 months + non invasive ventilation + + (no sitting position) 1 Italy
PubMed c.784G>A exon 13 c.1822C>T Classic infantile Classic infantile 2 months F 3 months + Tracheostomy + 1 Italy
PubMed c.784G>A exon 7 c.1082C>T Classic infantile Classic infantile <4.5 months M 4.5 m + 1 Caucasian (from mother: Sicilian and Polish/from father: English and Scottish
PubMed c.784G>A second mutation is not reported Classic infantile <12 months + 1 Northern India

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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