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Table 2 Neuropathology of patients with ABCA7 missense mutations

From: Rare missense mutations in ABCA7 might increase Alzheimer’s disease risk by plasma membrane exclusion

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

 + 

  1. aCoding nomenclature according to NM_019112.3
  2. bCombined annotation dependent depletion [67]
  3. cNeuropathological changes according to Montine et al. [68]
  4. 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