Pompe disease GAA variant database

Variants

PubMed 
exon 9 
c.1375G>A 
r.(1375g>a) 
p.(Asp459Asn) 
Substitution 
Substitution 
Substitution (missense) 
Likely pathogenic 
Unknown 
Unknown (disease-associated) 
Positive 
MAF is less than 1% 
rs535644999 
 
no effect on splicing 
 
protein is expressed 
Disease causing (p-value: 0.992) 
Deleterious (score: 0.02) 
Class C0 (GV: 44.60 - GD: 11.33) 
 

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