Human nACh e -- Asn 182

hAsn182Tyr

This mutation increases the ACh affinity for receptors in the resting closed state. When mapped on a structural model of the AChR binding site, N182Y localizes to the interface with the a subunit. However, the eD175 localizes to the entrance of the ACh binding cavity, suggesting that the protein chain with these two residues rearranges during receptor desensitization.

This mutation was found in a patient with myasthenic syndrome and was also studied with eD175N.

Sine SM, Shen XM, Wang HL, Ohno K, Lee WY, Tsujino A, Brengmann J, Bren N, Vajsar J, Engel WG (2002) Naturally Occurring Mutations at the Acetylcholine Receptor Binding Site Independenlty Alter ACh Binding and Channel Gating. Journal of General Physiology 120(4):483-496

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