SELENON (Selenoprotein N) variants and mutations

SELENON (also known as Selenoprotein N) is a human protein-coding gene encoding a selenoprotein N protein. It helps maintain redox and calcium homeostasis within the endoplasmic reticulum of skeletal muscle, particularly during oxidative and mechanical stress. Biallelic loss-of-function variants cause SELENON-related myopathy, often with axial weakness, rigid spine, and disproportionate respiratory impairment. This analysis covers 28 SELENON variants and mutations. Of these, 96% have computational variant effect predictions. Disease context includes rigid spine muscular dystrophy 1, classic multiminicore myopathy, and congenital fiber-type disproportion myopathy. Example SELENON variants include G2C, G2S, and G2V.

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, MaveDB, LitVar.

Notable SELENON variants

Examples include G2C, G2S, G2V, G2D, G2A, G2G, R3R, R3W. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.