ID | cDNAa | Protein | CADDb | AAO/I | AAD | DD | APOE | ADNCc | CAAd | Capillary CAA |
---|
1 | c.499G > A | p.E167K | 15.48 | 79 | 89 | 10 | 44 | A3B3C2 | M2P2 | + |
2 | c.1766C > G | p.A589G | 0.123 | 64 | 75 | 11 | 34 | A3B3C2 | M3P3 | + |
c.2476G > A | p.G826R | 20.8 |
3 | c.2632G > A | p.A878T | 16.32 | 51 | 61 | 10 | 33 | A3B3C3 | M3P3 | + |
4 | c.4357C > T | p.R1453C | 23.3 | 48 | 57 | 9 | 33 | A3B3C3 | M2P2 | + |
c.3148-5C > T | – | 0.103 |
5 | c.4357C > T | p.R1453C | 23.3 | 53 | 61 | 8 | 33 | A3B3C3 | M2P1-2 | + |
c.3148-5C > T | – | 0.103 |
6 | c.5191G > A | p.G1731S | 26.4 | 77 | 86 | 9 | 23 | A2B2C1 | M1-2P1 | + |
- aCoding nomenclature according to NM_019112.3
- bCombined annotation dependent depletion [67]
- cNeuropathological changes according to Montine et al. [68]
- dScoring for meningeal and parenchymal CAA: 0, no CAA; 1, scant beta amyloid deposition; 2, some circumferential beta amyloid; 3, widespread circumferential beta amyloid, according to Love et al. [69]. AAO/I, age at onset or if not available age at inclusion; AAD, age at death; DD, disease duration; ADNC, Alzheimer's disease neuropathological changes; CAA, cerebral amyloid angiopathy; M, meningeal CAA; P, parenchymal CAA