Human nACh e -- Pro 121

Species Original Mutated to Mutation
Human Pro 121 Leu

P121L

Rat Equivalent Pro 96    
Mouse Equivalent Pro 96    

hPro121Leu

This mutation caused a markedly decreased rate of channel opening but little change in affinity of the resting state for ACh, but reduced affinity of the open channel and desensitized states.

This mutation has been correlated with myasthenic syndrome.

Ohno K, Wang HL, Milone M, Bren N, Brengman JM, Nakano S, Quiram P, Pruitt JN, Sine SM, Engel AG (1996) Congenital Myasthenic Syndrome Caused by Decreased Agonist Binding Affinity Due to a Mutation in the Acetylcholine Receptor e Subunit. Neuron 17: 157-170

back to top
back to nACh e