Variants

Pompe disease GAA variant database

Variants

Link to Pubmed

PubMed

Location

exon 2

DNA nomenclature

c.221G>A

RNA nomenclature

r.(221g>a)

Protein nomenclature

p.(Arg74His)

Type of variant DNA

Substitution

Type of variant RNA

Substitution

Type of variant Protein

Substitution (missense)

ACMG classification

Likely benign

Predicted severity

Non-pathogenic

Phenotype with null allele

Unknown

CRIM status

Positive

MAF

MAF not reported

RS number

Biochemical evidence of pathogenicity

gives 103% residual activity in expression study

Splicing and translation prediction

no effect on splicing

Biochemical evidence of CRIM status

Prediction of CRIM status

protein is expressed

Missense prediction (Mutation Taster)

Polymorphism (p-value: 1)

Missense prediction (SIFT)

Tolerated (score: 0.58)

Missense prediction (Align GVGD)

Class C0 (GV: 353.86 - GD: 0.00)

Number of patients

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