nACh subunit a4 -- Glu 176

Species Original Mutated to Mutation
Human Glu 176



Rat Equivalent Glu 180 Gln E180Q
Mouse Equivalent Val 290    



When this mutation was co-expressed with the WT b 2, the effect of 2mM Ca 2+ was eliminated. When it was the co-expressed with V262M , the Ca 2+ blocked the 30 m M ACh response. The I Ca 2+ /I 0 of the E180Q 30 m M ACh response was 0.85 +/- 0.05, but for E180Q/V262M, it was 0.60 +/- 0.01.

Also studied: a 4 S252F , a 4 +L264 , b 2 V262L and b 2 V262M .

Rodrigues-Pinguet N, Jia L, Li M, Figl A, Klaassen A, Truong A Lester HA, Cohen BN (2003) Five ADNFLE Mutations Reduce the Ca 2+ Dependence of the Mammalian a4b2 Acetylcholine Response. Journal of Physiology 550(1):11-26

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