LAMP2 (P13473) variants and mutations

LAMP2 (also known as P13473) is a human protein-coding gene encoding a lysosome-associated membrane glycoprotein 2 protein. It supports lysosomal membrane integrity, autophagic cargo delivery, and lysosome-mediated turnover, with particularly important roles in heart and skeletal muscle. Loss-of-function variants cause X-linked Danon disease, typically with hypertrophic cardiomyopathy, skeletal myopathy, and variable intellectual disability. This analysis covers 670 LAMP2 variants and mutations. Of these, 74% have computational variant effect predictions. Disease context includes Danon disease, Abnormality of the cardiovascular system, and hypertrophic cardiomyopathy. Example LAMP2 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, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable LAMP2 variants

Examples include M1I, M1L, M1T, C3S, C3Y, F4L, R5C, R5H. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.