Human nACh e -- Val 132

Species Original Mutated to Mutation  
Human Val 132 Leu


Rat Equivalent Val 132      
Mouse Equivalent Val 132      


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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