Human nACh d -- Val 134
|Rat Equivalent||Val 134|
|Mouse Equivalent||Val 134|
This mutation does not affect the kinetics of receptor activation.
This mutation was studied along with aV132L, which has been correlated with myasthenic syndrome.
Shen XM, Ohno K, Tsujino A, Brengman JM, Gingold M, Sine SM, Engel AG (2003) Mutation Causing Severe Myasthenia Reveals Functional Asymmetry of AChR Signature Cystine Loops in Agonist Binding and Gating Journal of Clinical Investigations 111:497-505
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