GAA (Lysosomal alpha-glucosidase) variants and mutations

GAA (also known as Lysosomal alpha-glucosidase) is a human protein-coding gene encoding a lysosomal alpha-glucosidase protein. It degrades lysosomal glycogen to free glucose. Biallelic loss-of-function variants cause Pompe disease, ranging from severe infantile cardiomyopathy to later-onset progressive skeletal and respiratory muscle weakness. This analysis covers 2,158 GAA variants and mutations. Of these, 75% have computational variant effect predictions. Disease context includes Glycogen storage disease due to acid maltase deficiency, glycogen storage disease II, and glycogen storage disease due to acid maltase deficiency, infantile onset. Example GAA variants include M1I, M1L, and M1T.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable GAA variants

Examples include M1I, M1L, M1T, M1V, G2*, G2A, G2E, G2R. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.