Pompe disease GAA variant database
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Variants [647]

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 14 c.1935C>A r.(1935c>a) p.(Asp645Glu) Substitution Substitution Substitution (missense) MAF is less than 1% rs28940868 no effect on splicing endogenous protein on western blot protein is expressed 647 Potentially less severe Classic infantile Positive Disease causing (p-value: 0.923) Deleterious (score: 0) Class C35 (GV: 0.00 - GD: 44.60)
Displaying 1 - 50 of 62
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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.1935C>A exon 14 c.1935C>A Classic infantile Classic infantile unknown F/ F/ F unknown +/+/+ 3 Thai
PubMed c.1935C>A exon 4 c.[752C>T; 761C>T]/ Asian pseudodeficiency allele Unknown (disease-associated) Childhood (1)/ unknown (2) 14-34 months/unknown (2) M/ F/ M NBS - 3 Taiwan
PubMed c.1935C>A exon 4 c.784G>A/ Asian pseudodeficiency allele Classic infantile Classic infantile <1 month M NBS + 1 Taiwan
PubMed c.1935C>A exon 5 c.872T>C Classic infantile Classic infantile unknown NBS 1 Taiwan
PubMed c.1935C>A exon 6 c.988T>G Classic infantile Classic infantile 1 month F 6 months + + 1 China
PubMed c.1935C>A exon 6 c.1062C>G/ Asian pseudodeficiency allele Classic infantile Classic infantile <1 month M NBS + 1 Taiwan
PubMed c.1935C>A intron 7 c.1194+2T>C Classic infantile Classic infantile <1 month died 1 Taiwan
PubMed c.1935C>A exon 8 c.1199_1210del/ Asian pseudodeficiency allele Classic infantile Classic infantile <1 month F NBS + 1 Taiwan
PubMed c.1935C>A exon 8 c.1199_1210del Classic infantile Classic infantile <14 days/<16 days 55 months/28 months +/+ 2 Taiwan
PubMed c.1935C>A exon 9 c.1396G>T Classic infantile Classic infantile 12 days M 38 weeks + 1 Taiwan
PubMed c.1935C>A exon 9 c.1411_1414del Classic infantile Classic infantile 2 months/2 months M/ F died at 4m/died at 7m +/+ +/+ 2 China
PubMed c.1935C>A exon 9 c.1411_1414del Classic infantile Classic infantile 3 months/ unknown/unknown died at 6m/NBS/NBS 3 Taiwan
PubMed c.1935C>A exon 9 c.1411_1414del/ Asian pseudodeficiency allele Classic infantile Classic infantile <1 month F NBS + 1 Taiwan
PubMed c.1935C>A exon 9 c.1411_1414del/ Asian pseudodeficiency allele Classic infantile Classic infantile 2 months M 7 years + 1 Taiwan
PubMed c.1935C>A exon 9 c.1411_1414del Classic infantile Classic infantile <26 days NBS + - 1 Taiwan
PubMed c.1935C>A exon 9 c.1437G>C Classic infantile Classic infantile 8 months died at 10 months 1 Taiwan
PubMed c.1935C>A exon 10 c.1509_1511del Classic infantile Classic infantile 3 months died 1 Taiwan
PubMed c.1935C>A intron 10 c.1551+2T>G Classic infantile Classic infantile 6.8 months M died at <18.7 months + 1 Northern China
PubMed c.1935C>A exon 11 c.1585_1586delinsGT Adult Adult unknown unknown 1 Japan
PubMed c.1935C>A exon 13 c.1799G>A Classic infantile unknown unknown unknown 1 China
PubMed c.1935C>A exon 13 c.1843G>A Classic infantile unknown unknown unknown 1 China
PubMed c.1935C>A exon 13 c.1843G>A Classic infantile Childhood unknown unknown 1 Taiwan
PubMed c.1935C>A exon 13 c.1843G>A Classic infantile Classic infantile 4 months died 1 Taiwan
PubMed c.1935C>A exon 18 c.2560C>T Classic infantile Adult 25 years F 30 years 1 African american
PubMed c.1935C>A exon 14 c.1935C>A Classic infantile Classic infantile 3-6 months (17) unknown (17) + (17) + (17) 17 Taiwan
PubMed c.1935C>A exon 9 c.1411_1414del Classic infantile Classic infantile 3-6 months/3-6 months unknown (2) +/+ +/+ 2 Taiwan
PubMed c.1935C>A exon 14 c.2024_2026del Classic infantile Classic infantile 3-6 months/3-6 months unknown (2) +/+ +/+ 2 Taiwan
PubMed c.1935C>A exon 14 c.1935C>A Classic infantile Classic infantile unknown unknown 1 Japan
PubMed c.1935C>A exon 14 c.1935C>A Classic infantile Childhood unknown unknown 1 Taiwan
PubMed c.1935C>A exon 16 c.2238G>C Childhood or Adult Childhood unknown (2) unknown (2) 2 Taiwan
PubMed c.1935C>A exon 14 c.1935C>A Classic infantile Classic infantile <7 months (11) died at 5-34m (8)/unknown (3) 11 Taiwan
PubMed c.1935C>A exon 17 c.2380del Classic infantile Classic infantile 2 months died at 31 months 1 Taiwan
PubMed c.1935C>A exon 19 c.2662G>T Classic infantile Classic infantile 2 months died at 12 months 1 Taiwan
PubMed c.1935C>A exon 15 c.2174G>C Classic infantile Classic infantile 5 months died at 15 months 1 Taiwan
PubMed c.1935C>A exon 14 c.1960T>C Classic infantile Classic infantile 5 months died at 12 months 1 Taiwan
PubMed c.1935C>A exon 14 c.2024_2026del Classic infantile Classic infantile <1 month died 1 Taiwan
PubMed c.1935C>A second mutation is not reported/ Asian pseudodeficiency allele Classic infantile unknown F unknown + 1 Thai
PubMed c.1935C>A exon 14 c.1935C>A/ Asian pseudodeficiency allele Classic infantile Classic infantile <1 month F NBS + 1 Taiwan
PubMed c.1935C>A exon 20 c.2843dup/ Asian pseudodeficiency allele Classic infantile Classic infantile 29 days M NBS + 1 Taiwan
PubMed c.1935C>A exon 16 c.2238G>C/ Asian pseudodeficiency allele Childhood or Adult Childhood unknown M NBS - 1 Taiwan
PubMed c.1935C>A exon 16 c.2238G>C Childhood or Adult Childhood (1)/ Adult (1) 6 years/23 years M/ F 14 years/32 years -/+ +/+ 2 China
PubMed c.1935C>A exon 14 c.2024_2026del Classic infantile unknown unknown unknown 1 China
PubMed c.1935C>A intron 14 c.2040+1G>T Classic infantile Classic infantile 3 weeks F 48 days + - + - 1 Taiwan
PubMed c.1935C>A exon 16 c.2303C>T Classic infantile Classic infantile 9 days M NBS + 1 Taiwan
PubMed c.1935C>A exon 14 c.1935C>A Classic infantile unknown unknown unknown 1 China
PubMed c.1935C>A exon 17 c.2380del Classic infantile unknown unknown unknown 1 China
PubMed c.1935C>A second mutation is not reported unknown unknown unknown 2 China
PubMed c.1935C>A exon 2 c.2T>C/ Asian pseudodeficiency allele Childhood Childhood >2 years 14 years + + 1 China
PubMed c.1935C>A exon 16 c.2274dup/ Asian pseudodeficiency allele Classic infantile Classic infantile 13 days M NBS + 1 Taiwan
PubMed c.1935C>A exon 20 c.2815_2816del Classic infantile Classic infantile <1 year 1 USA

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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