Fig. 3

GSEC processivity and Aβ40/42 ratio predict AAO in ADAD-linked PSEN2 variants. A Comparison of clinical and predicted AAOs for PSEN2 mutations. Clinical AAOs for each PSEN2 mutation are shown in grey boxes (mean ± SD) with individual mutation carriers represented by coloured dots (each colour denotes one family). Purple and green boxes show predicted AAOs based on correlative data for Aβ(37 + 38 + 40)/(42 + 43) processivity ratio and AAO, or Aβ40/42 ratio and AAO, respectively (mean ± 95% CI) from correlations in Fig. 2E and F. Clinical AAOs for mutations showing no significant differences compared to PSEN2 WT in Figs. 2C/2D are shown on the right. B Summary table of PSEN2 data for variants that significantly altered Aβ ratios, including: mutation, number of cases, clinical AAO, predicted AAOs (based on processivity and Aβ40/42 ratios), 95% CI of predicted AAO, and APOE genotypes for reported cases (number per genotype in brackets). APOE genotype information was taken from Alzforum database and literature (Supplementary Table S1). * Number of cases included in this study vs total reported cases according to the Alzforum database