Pompe disease GAA variant database
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Variants [465]

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 10 c.1551+1G>T r.[=,1438_1551del] p.[(=),(Val480_Ile517del)] Substitution Substitution/ Splicing (splice donor site) Deletion MAF is less than 1% rs770780848 causes skip of exon 10 loss of exon 10 splice donor detection of leaky wildtype splicing unknown 465 Potentially less severe Unknown (disease-associated) Positive
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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.1551+1G>T intron 1B c.-32-13T>G Childhood or Adult Childhood (1)/ Adult (1) 16 years/28 years F/ F 19 years/35 years +/+ 2 France
PubMed c.1551+1G>T exon 8 c.1256A>T Unknown (disease-associated) Childhood unknown F 1.3 years 1 Greece
PubMed c.1551+1G>T intron 1B c.-32-13T>G Childhood or Adult Childhood 15 years M 28 years 1 France
PubMed c.1551+1G>T second mutation is not reported Classic infantile <12 months + 1 Southern India

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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