Pompe disease GAA variant database
Back to VariantsVariants [69]
Link to Pubmed Location DNA nomenclature RNA nomenclature Protein nomenclature Type of variant DNA Type of variant RNA Type of variant Protein MAF RS number Biochemical evidence of pathogenicity Splicing and translation prediction Biochemical evidence of CRIM status Prediction of CRIM status Number of patients Id Predicted severity Phenotype with null allele CRIM status Missense prediction (Mutation Taster) Missense prediction (SIFT) Missense prediction (Align GVGD)
PubMed exon 2 c.323G>A r.(323g>a) p.(Cys108Ser) Substitution Substitution Substitution (missense) MAF not reported no effect on splicing protein is expressed 69 Unknown Unknown (disease-associated) Positive Disease causing (p-value: 1) Deleterious (score: 0.03) Class C0 (GV: 195.55 - GD: 32.43)
Displaying 1 - 2 of 2
Link to
patients
Allele 1 DNA Allele 2
Location
Allele 2 DNA Allele 2
Phenotype with a null allele
Phenotype
of patient
Age of
Onset
Gender Age at
analysis
Cardiomyopathy Liver/
Spleen
Ventilatory
support
Respiratory
problems
Wheelchair
dependency
Mobility
problems
(Kypho)
Scoliosis
Ptosis Scapular
winging
Cerebral vessels
anomalies
No of patients
reported
Country/Region
PubMed c.323G>A exon 14 c.2014C>T Childhood or Adult Adult 21 years M 23 years - 1 China
PubMed c.323G>A second mutation is not reported Classic infantile <12 months + 1 Northern India
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 the following article if you use this database for research purposes:
Niño, MY, in 't Groen, SL, Bergsma, AJ, 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