SELENON
Chr 1ARselenoprotein N
Also known as: CFTD, CMYO3, CMYP3, MDRS1, RSMD1, RSS, SELN, SEPN1
The encoded glycoprotein localizes to the endoplasmic reticulum where it protects cells against oxidative stress and regulates redox-related calcium homeostasis. Autosomal recessive mutations cause SEPN1-related myopathy, which encompasses four early-onset muscle disorders including rigid spine muscular dystrophy, multiminicore disease, desmin-related myopathy with Mallory-body inclusions, and congenital fiber-type disproportion. Loss of function appears to be the pathogenic mechanism in these congenital myopathies.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
399 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 29 | 2 | 9 | 0 | 40 |
Likely Pathogenic | 15 | 9 | 1 | 0 | 25 |
VUS | 3 | 132 | 14 | 2 | 151 |
Likely Benign | 0 | 1 | 64 | 70 | 135 |
Benign | 0 | 0 | 23 | 0 | 23 |
Conflicting | — | 13 | |||
| Total | 47 | 144 | 111 | 72 | 387 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
SELENON · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Molecular and Genetic Studies of Congenital Myopathies
RECRUITINGCongenital Muscle Disease Study of Patient and Family Reported Medical Information
RECRUITINGA 5-year Natural History Study in LAMA2-related Muscular Dystrophy and SELENON-related Myopathy.
RECRUITINGExternal Resources
Links to major genomics databases and tools