Fig. 5

GSEC processivity and product line preference predict AAO in APP TMD variants. A Comparison of clinical and predicted AAOs for APP mutations. Grey boxes: clinical AAOs (mean ± SD); coloured dots: individual mutation carriers (each colour represents one family); purple boxes: AAOs predicted based on processivity ratio data (from Fig. 4C,D); blue boxes: AAOs predicted based on product line preference ratio data (from Fig. 4G,H). Predicted AAOs presented as mean ± 95% CI. Mutation classification (AD pathogenic or unclear) according to Alzforum database. B Summary table of APP TMD variants that significantly altered Aβ ratios, including: mutation, number of cases, clinical AAO, predicted AAOs (based on GSEC processivity or product line preference ratio data), 95% CI of predicted AAO, and APOE genotypes for reported cases (number per genotype in brackets). APOE genotype information sourced from Alzforum database and literature (Supplementary Table S2). * Number of cases included in this study vs total reported cases according to the Alzforum data base