Human nACh e -- Cys 128

Species Original Mutated to Mutation
Human Cys 128 Ser

C128S
Rat Equivalent Cys 103    
Mouse Equivalent Cys 103    

hCys128Ser

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

 

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