Fig. 9.

Detection of novel PSEN1 mutation and functional assay. a Direct sequencing of PSEN1 exon 12 of the patient demonstrated a novel mutation of c. 1249G > A indicated by arrow, resulted in a missense mutation of p.Gly417Ser. This mutation is predicted as probably damaging with a score of 0.979 by Polyphen-2 and a CADD score of 29.6. b The level of Aβ42 and the ratio of Aβ42/40 were significantly increased in the media of cells stably expressing mutant PS1 of p.G417S compared with those of wild-type. Data were plotted as mean ± SEM (n = 3). **P < 0.01