Pompe disease GAA variant database
Back to Master table

Variants [777]

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 16 c.2238G>C r.(2238g>c) p.(Trp746Cys) Substitution Substitution Substitution (missense) MAF is less than 1% rs1800312 gives 29,4% residual activity in expression study strengthens a cryptic splice donor site unknown 777 Potentially mild Childhood or adult Unknown Disease causing (p-value: 1) Deleterious (score: 0) Class C0 (GV: 268.54 - GD: 1.62)
Displaying 1 - 29 of 29
  • Print
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.2238G>C exon 2 c.241C>T Unknown (disease-associated) Childhood (2)/ Adult (1) 16 years/12 years/27 years M/ F/ F 24y/31y/29y +/-/+ +/-/+ unknown/unknown/+ 3 China
PubMed c.2238G>C exon 2 c.444C>G Unknown (disease-associated) Adult 23 years F 28 years - + + + + 1 Malaysian Chinese
PubMed c.2238G>C exon 5 c.871C>T Unknown (disease-associated) Childhood 12 years M 12 years - 1 China
PubMed c.2238G>C exon 8 c.1320_1322del Unknown (disease-associated) Childhood 15 years F 25 years + + 1 China
PubMed c.2238G>C exon 9 c.1356del Unknown (disease-associated) Adult 21 years F 23 years + + 1 China
PubMed c.2238G>C exon 9 c.1396del Classic infantile Adult 24 years/23 years F/ F 30 years/28 years -/- 2 China
PubMed c.2238G>C intron 10 c.1551+3_1551+6del Unknown (disease-associated) Adult 23 years F 23 years + + 1 China
PubMed c.2238G>C exon 14 c.1935C>A Classic infantile Childhood unknown (2) unknown (2) 2 Taiwan
PubMed c.2238G>C exon 14 c.1935C>A/ Asian pseudodeficiency allele Classic infantile Childhood unknown M NBS - 1 Taiwan
PubMed c.2238G>C exon 14 c.1935C>A Classic infantile Childhood (1)/ Adult (1) 6 years/23 years M/ F 14 years/32 years -/+ +/+ 2 China
PubMed c.2238G>C exon 16 c.2238G>C Childhood or Adult Childhood unknown unknown 1 Taiwan
PubMed c.2238G>C exon 19 c.2662G>T/ Asian pseudodeficiency allele Classic infantile Childhood 13-30 months M NBS - 1 Taiwan
PubMed c.2238G>C exon 16 c.2238G>C Childhood or Adult Childhood 17 years M 17 years - 1 China
PubMed c.2238G>C second mutation is not reported Childhood 10 years F 15 years - 1 China
PubMed c.2238G>C exon 17 c.2431del Unknown (disease-associated) Adult 25 years F 35 years + + 1 China
PubMed c.2238G>C exon 19 c.2662G>T Classic infantile Childhood 3 years F 17 years - 1 China
PubMed c.2238G>C exon 13 c.1822C>T Classic infantile Adult 41 years M 41 years - + + 1 South Korea
PubMed c.2238G>C exon 16 c.2235dup Classic infantile Childhood 1 years M 18 years 1 China
PubMed c.2238G>C exon 14 c.1935C>A Classic infantile Adult 26/21/32/34 years F/M/F/F 29/33/33/36 years +/+/+/+ -/-/-/+ 4 Hong Kong
PubMed c.2238G>C exon 8 c.1309C>T Childhood Childhood 16 years M 26 years - - 1 Hong Kong
PubMed c.2238G>C second mutation is not reported Adult >18 1 Belgium
PubMed c.2238G>C Asian pseudodeficiency allele (homozygous) NBS NBS 1 Japan
PubMed c.2238G>C exon 17 c.2297A>C Classic infantile Adult 22 years M 1 China
PubMed c.2238G>C exon 19 c.2662G>T Classic infantile Adult 21 years F 1 China
PubMed c.2238G>C exon 7 c.1156C>T Unknown (disease-associated) Childhood 5 years F 17 y, 5 m - + (hepatomegaly) - - Limb girdle weakness + 1 Korea
PubMed c.2238G>C exon 12 c.1655T>C Classic infantile Childhood 9 years M 11 y + + (BiPAP) + + (assistive device) + 1 Caucasian
PubMed c.2238G>C exon 15 c.2105G>A Classic infantile Adult 26 years F 1 China
PubMed c.2238G>C exon 16 c.2237G>A Classic infantile Childhood 1 years M 1 China
PubMed c.2238G>C exon 4 c.837G>C Unknown (disease-associated) Childhood 14 years M 1 China

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