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 14 | c.2014C>T | r.(2014c>u) | p.(Arg672Trp) | Substitution | Substitution | Substitution (missense) | MAF is less than 1% | rs757111744 | no effect on splicing | protein is expressed | 668 | Less severe | childhood or adult | Positive | Disease causing (p-value: 1) | Deleterious (score: 0) | Class C65 (GV: 0.00 - GD: 101.29) | |||
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.2014C>T | exon 2 | c.323G>A | Unknown (disease-associated) | Adult | 21 years | M | 23 years | - | 1 | China | ||||||||||
PubMed | c.2014C>T | exon 4 | c.766_785delinsC | Unknown (disease-associated) | Adult | 18-33 years | M | died at 44 years | + | 1 | USA | ||||||||||
PubMed | c.2014C>T | exon 5 | c.923A>T | Unknown (disease-associated) | Adult | 39 years | F | 44 years | - | - | - | + | - | - | - | 1 | France | ||||
PubMed | c.2014C>T | exon 10 | c.1465G>A | Classic infantile | Adult | adulthood | M | unknown | 1 | Italy | |||||||||||
PubMed | c.2014C>T | exon 12 | c.1703A>T | Unknown (disease-associated) | Childhood | 13 years | F | 38 years | - | FVC in sitting/ supine position 50/46% | + | 1 | Germany | ||||||||
PubMed | c.2014C>T | exon 12 | c.1748C>T | Unknown (disease-associated) | Childhood or Adult | unknown | >10 years | - | 1 | USA | |||||||||||
PubMed | c.2014C>T | intron 1B | c.-32-13T>G | Childhood or Adult | Childhood | <13 years | M | unknown | 1 | Italy | |||||||||||
PubMed | c.2014C>T | exon 17 | c.2385del | Unknown (disease-associated) | Childhood or Adult | unknown | >10 years | - | 1 | USA | |||||||||||
PubMed | c.2014C>T | exon 9 | c.1411_1414del | Classic infantile | Adult | 20 years | M | 29 years | - | - | 1 | Hong Kong | |||||||||
PubMed | c.2014C>T | exon 17 | c.2474C>G | Unknown (disease-associated) | Childhood or Adult | 1 | USA | ||||||||||||||
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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