Pompe disease GAA variant database

Variants

PubMed
intron 16
c.2331+2T>A
r.[2315_2331delins2332-109_2332-1 ,2315_2331del]
p.[Trp772Cysfs*40, Trp772Cysfs*18]
Substitution
Substitution/ Splicing (splice donor site)
Frameshift
Pathogenic
Very severe
Classic infantile
Negative
MAF not reported
no protein on western blot, causes partial skipping of exon 16 and partial inclusion of intron 16
loss of exon 16 splice donor
no endogeneous protein on western blot
unknown
Back to list

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