DYSF (Dysferlin) variants and mutations

DYSF (also known as Dysferlin) is a human protein-coding gene encoding a dysferlin protein. It is required for calcium-dependent membrane repair in skeletal muscle and contributes to vesicle fusion after sarcolemmal injury. Biallelic loss-of-function variants cause dysferlinopathies, including limb-girdle muscular dystrophy R2 and Miyoshi distal myopathy. This analysis covers 3,623 DYSF variants and mutations. Of these, 38% have computational variant effect predictions. Disease context includes autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1, and distal myopathy with anterior tibial onset. Example DYSF variants include M1?, M1T, and M1V.

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, MaveDB, LitVar.

Notable DYSF variants

Examples include M1?, M1T, M1V, L2P, L2R, L2L, L2M, R3K. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.