Variants

Pompe disease GAA variant database

Variants

Link to Pubmed

PubMed

Location

exon 2

DNA nomenclature

c.482_483del

RNA nomenclature

r.(482_483del)

Protein nomenclature

p.(Pro161Glnfs*15)

Type of variant DNA

Deletion

Type of variant RNA

Deletion

Type of variant Protein

Frameshift

ACMG classification

Pathogenic

Predicted severity

Very severe

Phenotype with null allele

Unknown (disease-associated)

CRIM status

Negative

MAF

MAF is less than 1%

RS number

rs764750389

Biochemical evidence of pathogenicity

Splicing and translation prediction

no effect on splicing - causes an out of frame product

Biochemical evidence of CRIM status

Prediction of CRIM status

protein is not expressed

Missense prediction (Mutation Taster)

Missense prediction (SIFT)

Missense prediction (Align GVGD)

Number of patients

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