Pompe disease GAA variant database
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Variants [804]

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 intron 16 c.2331+2T>A r.[2315_2331delins2332-109_2332-1 ,2315_2331del] p.[Trp772Cysfs*40, Trp772Cysfs*18] Substitution Substitution/ Splicing (splice donor site) Frameshift MAF not reported no protein on western blot, causes partial skipping of exon 16 and partial inclu More ... loss of exon 16 splice donor no endogeneous protein on western blot unknown 804 Very severe Classic infantile Negative
Displaying 1 - 7 of 7
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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.2331+2T>A intron 16 c.2331+2T>A Classic infantile unknown <2 years unknown 1 unknown
PubMed c.2331+2T>A intron 1B c.-32-13T>G Childhood or Adult Childhood 2.5 years/5 years M/ F 13 years/7.8 years -/- FVC in sitting/ supine position 66/54% / 108/104% -/- MRC 84%/MRC 100% 2 Caucasian
PubMed c.2331+2T>A intron 1B c.-32-13T>G Childhood or Adult Childhood or Adult unknown unknown 1 Caucasian
PubMed c.2331+2T>A intron 1B c.-32-13T>G Childhood or Adult Adult young adult M - 1 German
PubMed c.2331+2T>A CCDC40 and GAA exon 1 Ch37/hg19 chr17:78,059,821_ 78,076,592del Classic infantile Classic infantile <1 month + 1 Netherlands
PubMed c.2331+2T>A intron 1B c.[-32-13T>G; c.510C>T] Childhood or Adult Childhood 2.5 3 1 Unknown
PubMed c.2331+2T>A intron 1B c.-32-13T>G Childhood or Adult Childhood 5 7.7973990417522 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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