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.377G>A r.(377g>a) p.(Trp126*) Substitution Substitution Substitution (nonsense) MAF not reported no effect on splicing protein is not expressed 79 Very severe Classic infantile Negative
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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.377G>A exon 2 c.236_246del Classic infantile Classic infantile 2 months M died at 10 months + + - 1 Spanish-Italian
PubMed c.377G>A exon 2 c.377G>A Classic infantile Classic infantile 3 months F died at 8 months + + - + 1 Italy
PubMed c.377G>A intron 1B c.-32-13T>G Childhood or Adult Childhood (1)/ Adult (2) 46 years/20 years/15 years M/ M/ F unknown (3) +/+/- +/+/unknown +/+/+ 3 Italy
PubMed c.377G>A exon 18 c.2501_2502del Classic infantile Classic infantile at birth F 9 months + + 1 Brazil
PubMed c.377G>A exon 12 c.1655T>C Classic infantile Childhood 2 years F 10 years - + 1 Brazil
PubMed c.377G>A exon 12 c.1655T>C Classic infantile Childhood 14 years/5 years 20 years/11 years valvular myopathy (2) +/+ 2 Brazil

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