LAMA2 (Laminin subunit alpha-2) variants and mutations

LAMA2 (also known as Laminin subunit alpha-2) is a human protein-coding gene encoding a laminin subunit alpha-2 protein. It links cells to surrounding extracellular matrix through dystroglycan and integrins. Biallelic loss-of-function variants cause LAMA2-related muscular dystrophy, ranging from severe congenital disease to later-onset limb-girdle weakness. This analysis covers 4,740 LAMA2 variants and mutations. Of these, 72% have computational variant effect predictions. Disease context includes Congenital muscular dystrophy type 1A, congenital merosin-deficient muscular dystrophy 1A, and muscular dystrophy, limb-girdle, autosomal recessive 23. Example LAMA2 variants include M1T, P2R, and P2S.

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, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable LAMA2 variants

Examples include M1T, P2R, P2S, P2L, P2P, G3E, G3R, G3*. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.