CHRNA1

Chr 2q31.1

cholinergic receptor nicotinic alpha 1 subunit

MANE:: ENST00000348749.9

OMIM: 100690 ↗NCBI: 1134 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

CHRNA1 · P02708

v62025-08-01

Predicted Aligned Error matrix for CHRNA1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

84.0/ 100

Confident

457 residues

Confidence breakdown

Very high(≥ 90)55%
Confident(70–90)29%
Low(50–70)7%
Very low(< 50)9%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Arthrogryposis
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital myaesthenic syndrome
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Fetal hydrops
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Congenital myasthenic syndromes
0.82
Postsynaptic congenital myasthenic syndromes
0.79
lethal multiple pterygium syndrome
0.78
Muscle spasm
0.53
muscle cramp
0.53
postsynaptic congenital myasthenic syndrome
0.38
congenital myasthenic syndrome, dominant/recessive
0.37
Seizure
0.36
congenital myasthenic syndrome
0.35
congenital myopathy
0.34

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Acetylcholine receptor subunit alpha

Upon acetylcholine binding, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane