Table 2 Analysed mutations in APP TMD and associated AAOs
APP TMD mutation | Mean AAO (range) | # Cases | Classification | |
|---|---|---|---|---|
1 | L705V | 63.4 (50.0–72.0) | 5 | CAA: Pathogenic |
2 | A713T | 61.3 (49.0–76.0) | 13/16 (*) | Uncertain significance |
3 | T714A | 53.0 (44.0–69.0) | 10/11 (*) | Pathogenic |
4 | T714I | 37.4 (32.0–42.0) | 7 | Pathogenic |
5 | V715A | 48.7 (42.0–55.0) | 6 | Pathogenic |
6 | V715M | 49.3 (41.0–60.0) | 4 | Pathogenic |
7 | I716F | 33.7 (30.0–47.0) | 6 | Pathogenic |
8 | I716M | 64.0 | 1 | Not classified |
9 | I716T | 36.0 | 1 | Not classified |
10 | I716V | 55.7 (53.0–58.0) | 3 | Not classified |
11 | V717F | 44.9 (37.0–52.0) | 21 | Pathogenic |
12 | V717G | 52.5 (40.0–67.0) | 17 | Pathogenic |
13 | V717I | 53.9 (41.0–62.0) | 61 | Pathogenic |
14 | V717L | 46.9 (35.0–59.0) | 26 | Pathogenic |
15 | T719N | 45.5 (45.0–46.0) | 2 | Pathogenic |
16 | T719P | 43.0 | 1 | Not classified |
17 | M722K | 49.2 (38.0–56.0) | 5 | Pathogenic |
18 | L723P | 47.0 (45.0–57.0) | 3 | Pathogenic |
19 | K724N | 53.5 (52.0–55.0) | 2 | Not classified |