Two rare variations, D478N and D478E, that occur at the same amino acid residue in nicotinic acetylcholine receptor (nAChR) a2 subunit influence nAChR function

摘要

There occur two rare variations, Asp(D)478Asn(N) and Asp(D)478Glu(E), in the putative cytoplasmic amphipathic a-helices of human nicotinic acetylcholine receptor (nAChR) A: rsl41072985) and 3rd (C -> A: rs56344740) nucleotide of its 478th triplet codon (GAC). We assessed the effects of these two variations on the function of N) and side chain length (D -> E) in nAChR a2 subunit.