Pompe disease GAA variant database
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.118C>T r.(118c>u) p.(Arg40*) Substitution Substitution Substitution (nonsense) MAF is less than 1% rs767409395 no effect on splicing protein is not expressed 45 Very severe Classic infantile Negative
Displaying 1 - 8 of 8
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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.118C>T intron 1B c.-32-13T>G Childhood or Adult Adult 49 years F 64 years - - + - 1 France
PubMed c.118C>T exon 2 c.118C>T Classic infantile Classic infantile <5 months died at 11 months + 1 Pakistan
PubMed c.118C>T exon 2 c.118C>T Classic infantile unknown <1 year unknown 1 Portugal
PubMed c.118C>T intron 1B c.-32-13T>G Childhood or Adult Adult 40 years F 69 years - + at night - - + + 1 France
PubMed c.118C>T intron 18 c.2647-7G>A Adult Adult 35-53 years F (4)/ M (3) unknown + (6) + (7) + (7) + (6)/ND (1) 7 Italy
PubMed c.118C>T exon 2 c.546G>T Childhood or Adult Childhood 1 years F - - - - - 1 Japan
PubMed c.118C>T intron 1B c.-32-13T>G Childhood or Adult Adult 20 years F 77 years + Bent spine syndrome 1 France
PubMed c.118C>T intron 1B c.-32-13T>G Childhood or Adult Adult ranging 20 to 60 years 5 France

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

www.pompecenter.nl