CHRND

Chr 2q37.1

cholinergic receptor nicotinic delta subunit

MANE:: ENST00000258385.8

OMIM: 100720 ↗NCBI: 1144 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

CHRND · Q07001

v62025-08-01

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

Mean pLDDT

83.8/ 100

Confident

517 residues

Confidence breakdown

Very high(≥ 90)50%
Confident(70–90)33%
Low(50–70)12%
Very low(< 50)6%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Arthrogryposis
BIALLELIC, autosomal or pseudoautosomal
Congenital myaesthenic syndrome
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal hydrops
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Congenital myasthenic syndromes
0.77
lethal multiple pterygium syndrome
0.75
Muscle spasm
0.53
muscle cramp
0.53
postsynaptic congenital myasthenic syndrome
0.37
Postsynaptic congenital myasthenic syndromes
0.37
centronuclear myopathy
0.34
Breathing dysregulation
0.33
Dyspnea
0.33
Muscle weakness
0.33

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

Protein function (UniProt)

Acetylcholine receptor subunit delta

After binding acetylcholine, 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