Human nACh e -- Cys 128
|Rat Equivalent||Cys 103|
|Mouse Equivalent||Cys 103|
This mutation causes the disulfide bond of the cysteine loop to not form which prevents association of a and e subunits. This mutation fails to incorporate into cell-surface pentamers and is therefore classified as a null mutation.
This mutation was found in patients with myasthenic syndrome.
Milone M, Wang HL, Ohno K, Prince R, Fukudome T, Shen XM, Brengman JM, Griggs RC, Sine SM, Engel AG (1998) Mode Switching Kinetics Produced by a Naturally Occurring Mutation in the Cytoplasmic Loop of the Human Acetylcholine Receptor e Subunit. Neuron 20: 575-588
back to top
back to nACh e