cholinergic receptor nicotinic beta 1 subunit
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Diagnostic Grade (Green)
Arthrogryposis
BOTH monoallelic and biallelic, autosomal or pseudoautosomalCongenital myaesthenic syndrome
BOTH monoallelic and biallelic, autosomal or pseudoautosomalDDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalFetal anomalies
BOTH monoallelic and biallelic, autosomal or pseudoautosomalCongenital myasthenic syndromes
muscle cramp
Muscle spasm
Postsynaptic congenital myasthenic syndromes
congenital myasthenic syndrome, dominant/recessive
postsynaptic congenital myasthenic syndrome
cardiac arrest
neurodegenerative disease
acute respiratory distress syndrome
ischemic stroke
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Acetylcholine receptor subunit beta
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
CHRNB1 · P11230
Mean pLDDT
79.4/ 100
Confident
501 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
