Human nACh e -- Ser 143

Species Original Mutated to Mutation  
Human Ser 143 Leu

S143L

 
Rat Equivalent Ser 118      
Mouse Equivalent Ser 118      

hSer143Leu

This mtuation has been correlated with myasthenic syndrome.

Ohno K, Wang HL, Milone M, Bren N, Brengman JM, Nakano S, Quiram P, Pruitt JN, Sine SM, Engel AG (1996) Congenital Myasthenic Syndrome Caused by Decreased Agonist Binding Affinity Due to a Mutation in the Acetylcholine Receptor e Subunit. Neuron 17: 157-170

 

back to top
back to nACh e