Pompe disease GAA variant database
Back to VariantsVariants [197]
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 4 c.796C>T r.(796c>u) p.(Pro266Ser) Substitution Substitution Substitution (missense) MAF not reported gives 18% residual activity in expression study no effect on splicing protein is expressed 197 Potentially mild Classic infantile Positive Disease causing (p-value: 0.603) Tolerated (score: 0.85) Class C0 (GV: 99.44 - GD: 0.00)
Displaying 1 - 9 of 9
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.796C>T exon 8 c.1316T>A Classic infantile Childhood 9 years M 15 years + at night + + 1 Korea
PubMed c.796C>T exon 15 c.2105G>A Classic infantile Childhood 1 year and 9 months M unknown + - + 1 China
PubMed c.796C>T exon 8 c.1309C>T Childhood Childhood 8 years M unknown + 1 China
PubMed c.796C>T exon 8 c.1316T>A Classic infantile Childhood 9 years M 11 years - 1 Korea
PubMed c.796C>T exon 8 c.1309C>T Childhood Childhood 8 years M 14 years - 1 China
PubMed c.796C>T exon 11 c.1602_1605delinsAGG Classic infantile Classic infantile ~3.4 months F ~4.9 months + + 1 Northern China
PubMed c.796C>T exon 14 c.1935C>A Classic infantile Classic infantile ~3.4 months M ~4.9 months + + 1 Northern China
PubMed c.796C>T exon 2 c.546G>T Childhood or Adult Childhood/ Adult 23 years M 30 years NA/- +/ - NA/- NA/+ NA/+ 2 Japan
PubMed c.796C>T Asian pseudodeficiency allele NBS NBS NBS 1 Japan

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


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