Human nACh d -- Val 134

Species Original Mutated to Mutation
Human Val 134 Leu


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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