Pompe disease GAA variant database

Variants

PubMed 
exon 2 
c.322T>G 
r.(322u>g) 
p.(Cys108Gly) 
Substitution 
Substitution 
Substitution (missense) 
Uncertain significance 
Potentially less severe 
Unknown 
Unknown 
MAF not reported 
 
8,2% residual activity and affects secretion & processing in expression study 
new cryptic splice donor 
 
unknown 
Disease causing (p-value: 1) 
Tolerated (score: 0.07) 
Class C0 (GV: 195.55 - GD: 75.02) 
 

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