Expression of KIFBP is altered in the presence of the missense variants. (a) q‐PCR results showing relative normalized expression of KIFBP following transfection with wild type (WT) or mutant constructs. All mutant constructs show a decrease in KIFBP expression compared with WT levels. (b) Western blot of KIFBP expression following transfection of either WT or mutant constructs. Decreased KIFBP expression was detected for all mutants. (c) Quantification of protein expression after normalization for GAPDH. Mut1, A68G, shows ~70% expression, Mut2, A1279G, shows ~80% expression, and Mut3, C565T, shows ~25% expression, when compared with the WT. Error bars show SEM. q‐PCR, quantitative polymerase chain reaction; SEM, standard error of mean; UT, untransfected. *p < .05.