Pompe disease GAA variant database


intron 17
r.[2331_2332ins2332-109_2332-1; 2462_2481del, 2462_2481del, 2332_2481del]
p.[Val778AlaSerTer, Tyr822Profs*55, Val778_Gln827del]
Substitution/ Splicing (splice donor site)
Very severe
Unknown (disease-associated)
MAF not reported
causes partial inclusion of intron 16 and partial skipping of exon 17
loss of exon 17 splice donor

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