Human nACh a2 -- Ile 279

Species Original Mutated to Mutation
Human Ile 279 Asn

I 279N

Rat Equivalent Ile 279    
Mouse Equivalent Ile 256    


The a2(I279N) mutation in the human nicotinic acetylcholine recptor a2 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). Mutant a2(I279N)b4 receptors were expressed transiently in HEK293 cells to study their functional properties using the whole-cell patch-clamp technique. The mutation caused an increase in the potency of acetylcholine as an agonist. The EC50 for acetylcholine was 2.84 +/- 0.16 mM for the WT a2b4 receptor and 0.52 +/- 0.07 mM for the mutant a2(I279N)b4 receptor. The increase in potency was also apparent when a2(I279N) was expressed with the WTa2 and the b4 subunit (EC50 = 1.66 +/- 0.25 mM) .

Aridon P,Marini C,Chiara RD,Brilli E,Fusco MD,Politi F,Parrini E,Manfredi I,Pisano T,Pruna D,Curia G,Cianchetti C,Pasqualetti M,Becchetti A, Guerrini R and Casari G. (2006) Increased sensitivity of the neuronal nicotinic receptor a2 subunit causes familial epilepsy with nocturnal wandering and ictal fear. American Journal of Human Genetics Aug;79(2):342-50.

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