DES (Desmin) variants and mutations

DES (also known as Desmin) is a human protein-coding gene encoding a desmin protein. Its desmin filaments mechanically integrate sarcomeres with the nucleus, mitochondria, and cell junctions in striated muscle. Pathogenic variants cause desmin-related myopathy and can produce cardiomyopathy, conduction disease, and skeletal-muscle weakness. This analysis covers 1,292 DES variants and mutations. Of these, 89% have computational variant effect predictions. Disease context includes myofibrillar myopathy 1, Desminopathy, and dilated cardiomyopathy 1I. Example DES variants include M1T, M1V, and S2I.

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

Diseases linked to DES

Notable DES variants

Examples include M1T, M1V, S2I, S2N, S2S, S2R, Q3*, Q3E. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.