CHRNE
Chr 17ADARcholinergic receptor nicotinic epsilon subunit
Also known as: ACHRE, CMS1A1, CMS1D, CMS1E, CMS2A, CMS4A, CMS4B, CMS4C
The epsilon subunit is a component of the pentameric acetylcholine receptor at the neuromuscular junction that replaces the embryonic gamma subunit after birth. Mutations cause congenital myasthenic syndrome through gain-of-function (slow-channel), loss-of-function (fast-channel), or receptor deficiency mechanisms. Inheritance is autosomal dominant for slow-channel forms and autosomal recessive for fast-channel and deficiency forms.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CHRNE · 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
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools