Pompe disease GAA variant database
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.484A>C r.(484a>c) p.(Lys162Gln) substitution substitution Substitution (missense) MAF not reported strenghens a cryptic splice acceptor unknown 97 Potentially less severe Classic infantile Unknown Polymorphism (prob: 1) Tolerated (score: 0.07) Class C0 (GV: 38.73 - GD: 19.90)
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PubMed 		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.484A>C exon 12 c.1696T>C Classic infantile Classic infantile 4 months F +/+ +/+ +/- +/- -/- 2 Japan