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 13 | c.1857C>G | r.(1857c>g) | p.(Ser619Arg) | Substitution | Substitution | Substitution (missense) | MAF not reported | no effect on splicing | protein is expressed | 617 | Less severe | Classic infantile or Childhood | Positive | Disease causing (p-value: 0.915) | Deleterious (score: 0.01) | Class C15 (GV: 99.13 - GD: 95.56) | ||||
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.1857C>G | exon 5 | c.875A>G | Classic infantile | Childhood | 6 months | M | 3.8-5.5 years | + | + | + | 1 | Korea | ||||||||
PubMed | c.1857C>G | exon 7 | c.1156C>T | Unknown (disease-associated) | Childhood | 4-10 months | M | 4.9 years | + | + | 1 | Korea | |||||||||
PubMed | c.1857C>G | exon 14 | c.2015G>A | Classic infantile or Childhood | Childhood | 5-6 years | M | 27 years | Mitral valve prolapse | + | + | + | + | 1 | Korea | ||||||
PubMed | c.1857C>G | exon 12 | c.1735G>A | Classic infantile | Childhood | 2 years | M | 12 years | mild cardiac hypertrophy | - | + | + | 1 | Japan | |||||||
PubMed | c.1857C>G | exon 13 | c.1857C>G | Classic infantile or Childhood | Childhood | 12 years | M | 21 years | - | + | + | + | + | + | 1 | Japan | |||||
PubMed | c.1857C>G | exon 13 | c.1857C>G | Classic infantile or Childhood | Childhood | 7 years | M | 15 years | + at night | + | - | 1 | Japan | ||||||||
PubMed | c.1857C>G | exon 13 | c.1857C>G | Classic infantile or Childhood | Classic infantile (1) / Childhood (2) | 1 years/17 years/4 years | M | +/+/- | -/+/- | -/+/- | -/+/- | -/+/- | 3 | Japan | |||||||
PubMed | c.1857C>G | exon 13 | c.1798C>T | Classic infantile | Classic infantile (2) | 10 months/1 month | F/M | +/+ | +/- | -/+ | -/+ | -/+ | 2 | Japan | |||||||
PubMed | c.1857C>G | exon 8 | c.1309C>T | Childhood | Adult | 19 years | F | + | + | + | + | + | 1 | Japan | |||||||
PubMed | c.1857C>G | exon 12 | c.1735G>A | Classic infantile | Childhood | 2 years | M | 20 years | - | - | + | + | + | 1 | Japan | ||||||
PubMed | c.1857C>G | Asian pseudodeficiency allele | 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. 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 |
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