Human nACh e -- Ala 411
|Rat Equivalent||Ala 132|
|Mouse Equivalent||Ala 132|
The mutation caused a much broader distribution of the single channel open probability than the wildtype for individual clusters at an ACh concentration of 30mM. This mutation was shown to greatly expand the distribution of channel opening and closing rate constants, but does not affect the distributions for agonist binding rate constants.
This mutation is thought to be a cause of myasthenic syndrome.
Wang HL, Ohno K, Milone M, Brengman JM, Evoli A, Batocchi AP, Middleton LT, Christodoulou K, Engel AG, Sine SM (2000) Fundamental Gating Mechanism of Nicotinic Receptor Channel Revealed by Mutation Causing a Congenital Myasthenic Syndrome. Journal of General Physiology 116: 449-460
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