Pompe disease GAA variant database
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Variants [111]

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.546G>T r.[-32_546del,546g>u,546g>u; 546_547ins546+1_546+184] p.[=,0, Ile183Valfs*67] Substitution Substitution/ Splicing (splice donor site) Substitution (silent), Insertion MAF not reported causes partial inclusion of intron 2 weakens exon 2 splice donor detection of leaky wildtype splicing unknown 111 Potentially mild Childhood or Adult Unknown
Displaying 1 - 12 of 12
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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.546G>T exon 13 c.1798C>T Classic infantile Childhood 3 years M 9 years - - + 1 Japan
PubMed c.546G>T exon 2 c.546G>T Childhood or Adult Adult 41 years/35 years M/ F 44 years/62 years -/+ -/+ -/+ +/+ 2 Japan
PubMed c.546G>T exon 13 c.1798C>T Classic infantile Childhood 12 years F 30 years + + + + 1 Japan
PubMed c.546G>T exon 15 c.2171C>A Classic infantile Childhood 17 years unknown - - - - - + 1 Korea
PubMed c.546G>T exon 2 c.546G>T Childhood or Adult Adult 32 years F 57 years + mild + 1 Japan
PubMed c.546G>T exon 2 c.546G>T Childhood or Adult Childhood (1)/ Adult (4) 40/42/2,5/70/30 years M/F/M/M/F - /-/NA/-/- -/-/-/-/- +/-/+/-/- +/-/+/-/- -/-/NA/-/- 5 Japan
PubMed c.546G>T exon 13 c.1798C>T Classic infantile Adult 28 years F 36 years - - - - - 1 Japan
PubMed c.546G>T exon 7 c.1099T>C Classic infantile Adult 72 years M - - + + - 1 Japan
PubMed c.546G>T exon 4 c.796C>T Classic infantile Childhood/ Adult 23 years M 30 years NA/- +/ - NA/- NA/+ NA/+ 2 Japan
PubMed c.546G>T exon 2 c.118C>T Classic infantile Childhood 1 years F - - - - - 1 Japan
PubMed c.546G>T exon 8 c.1316T>A Classic infantile Childhood 10 years M 15 years - - - 1 South Korea
PubMed c.546G>T Asian pseudodeficiency allele NBS NBS NBS 4 Japan

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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