Pompe disease GAA variant database
  2. List of variants
  3. Reported patients [Lookup other mutation]
Back to VariantsVariants [278]
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 6 c.1064T>C r.(1064u>c) p.(Leu355Pro) Substitution Substitution Substitution (missense) MAF is less than 1% rs766074609 no effect on splicing endogenous protein on western blot protein is expressed 278 Potentially less severe Classic infantile or Childhood Positive Disease causing (p-value: 1) Tolerated (score: 0.08) Class C0 (GV: 120.48 - GD: 28.88)
Displaying 1 - 17 of 17
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.1064T>C exon 2 c.380G>T Unknown (disease-associated) Childhood 1 year F died at 5 years + + + + + 1 Portugal
PubMed c.1064T>C exon 3 c.670C>T Classic infantile or Childhood Childhood 5-6 years M 6 years - + + + + 1 Lebanon
PubMed c.1064T>C exon 7 c.1120T>C Classic infantile Classic infantile <1 year <1.5 years + 1 Turkey
PubMed c.1064T>C exon 6 c.1064T>C Classic infantile or Childhood Childhood 2 years F 2 years cardiac failure + + + 1 Italy
PubMed c.1064T>C exon 6 c.1064T>C Classic infantile or Childhood Childhood <2 years M died at 20 years + + + + + + 1 Italy
PubMed c.1064T>C exon 6 c.1064T>C Classic infantile or Childhood Childhood childhood unknown 1 Syrian
PubMed c.1064T>C intron 1B c.-32-13T>G Childhood or Adult Childhood 15 years M 15 years - + + - - 1 Caucasian
PubMed c.1064T>C exon 6 c.1064T>C Classic infantile or Childhood Classic infantile <4 months M 4 months + 1 Italy
PubMed c.1064T>C exon 14 c.1927G>A Classic infantile Classic infantile <5 months M 5 months + 1 Italy
PubMed c.1064T>C exon 7 c.1106T>C Unknown (disease-associated) Childhood 1.1 years M 5 years - + + + - 1 Colombia
PubMed c.1064T>C exon 6 c.1064T>C Classic infantile or Childhood Childhood 6 years M 11 years - - + + + + 1 Colombia
PubMed c.1064T>C exon 12 c.1666A>G/ Asian pseudodeficiency allele Unknown (disease-associated) Childhood 10-13 years/11 years F/ F 13 years/11 years -/- + at night/+ at night +/+ +/- +/+ +/- +/- 2 Portugal
PubMed c.1064T>C exon 6 c.1064T>C Classic infantile or Childhood Childhood >2 years F 4 years - + + + 1 Portugal
PubMed c.1064T>C exon 6 c.1064T>C Classic infantile or Childhood Classic infantile 4 months/2 months/2 months F/F/F 4 months/4 months/6 months + +/+/- + +/+/+ 3 Saudi Arabia
PubMed c.1064T>C intron 1B c.-32-13T>G Childhood or Adult Adult M 70 years 1 USA
PubMed c.1064T>C intron 14 c.2041-2A>C Classic infantile Classic infantile 3 months F 5 months + non invasive ventilation + 1 Italy
PubMed c.1064T>C exon 6 c.1064T>C Classic infantile or Childhood Childhood <12 years + 0

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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