the L363Q variant, but not the V134I, K167R, F266I or D398N variants. Valine 97 in α5 protein is invariant among species and isoleucine substitution is predicted to be “probably damaging” by PolyPhen2 (http://genetics.bwh.harvard.edu/pph2/). Similar PolyPhen2 predictions are made for V134I, K167R, F266I and L363Q (Table 1). It remains unknown if this individual is a compound heterozygote or if both damaging variants occur on the same CHRNA5 allele.
