Human nACh e -- Pro 121

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

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