Pompe disease GAA variant database


exon 2 
r.[-32_546del,546g>u,546g>u; 546_547ins546+1_546+184] 
p.[=,0, Ile183Valfs*67] 
Substitution/ Splicing (splice donor site) 
Substitution (silent), Insertion 
Potentially mild 
Childhood or Adult 
MAF not reported 
causes partial inclusion of intron 2 
weakens exon 2 splice donor 
detection of leaky wildtype splicing 

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