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
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