Gene-Exon
|
AA change
|
rs ID
|
Codonchange
|
AD&FTDa
|
Alzheimer's disease cases
|
Controls
|
---|
| | | | |
Count (%)
|
AAO range, years
|
Diagnosesb
|
Count (%)
|
---|
GRN-8
|
Ile256IlefsX27
|
-
|
[-/CC]
|
-
|
1/176 (0.57)
|
60.5
|
1 FL
|
0/459 (0)
|
MAPT-10
|
GTC-aTC
|
149280278
|
V287I
|
-
|
2/176 (1.14)
|
64.5-70.5
|
1 SE and 1 FL
|
0/534 (0)
|
MAPT-4A
|
TCG-TtG
|
73314997
|
S318L
|
-
|
1/176 (0.57)
|
64.5
|
1 SE
|
0/139 (0)
|
MAPT-4A
|
GGG-aGG
|
76375268
|
G213R
|
-
|
1/176 (0.57)
|
64.5
|
1 SE
|
0/139 (0)
|
MAPT-4A
|
GTC-GgC
|
141120474
|
V224G
|
-
|
3/176 (1.7)
|
58.5-72.5
|
1 FE and 2 FL
|
1/139 (0.72)
|
MAPT-4A
|
CAA-CgA
|
63750072
|
Q230R
|
-
|
18/176 (10.23)
|
50.5-83.5
|
1 AC, 2 FE, 2 FL, and 13 SE
|
8/139 (5.8)
|
MAPT-4A
|
GCC-GtC
|
-
|
A297V
|
-
|
1/176 (0.57)
|
59.5
|
1 FE
|
0/139 (0)
|
MAPT-7
|
GCC-aCC
|
143624519
|
A152T
|
-
|
2/176 (1.14)
|
57.5
|
1 AC and 1 SE
|
0/139 (0)
|
PSEN1-5
|
ATG-AcG
|
63751106
|
M139T
|
Pathogenic
|
1/176 (0.57)
|
47.5
|
1 SE
|
0/459 (0)
|
PSEN1-6
|
TTG-TTt
|
-
|
L173F
|
Pathogenic
|
1/176 (0.57)
|
50.5
|
1 SE
|
0/459 (0)
|
PSEN1-9
|
GAA-GgA
|
17125721
|
E318G
|
Not pathogenic
|
2/176 (1.14)
|
56.5-65.5
|
2 SE
|
3/139 (2.2)
|
PSEN1-11
|
CTG-gTG
|
63751416
|
L392V
|
Pathogenic
|
1/176 (0.57)
|
42.5
|
1 FE
|
Not available
|
- aAlzheimer Disease & Frontotemporal Dementia mutation database [15]. bThis column summarizes the status of carriers in Alzheimer's disease cases. AAO, age at onset; AC, autopsy-confirmed Alzheimer's disease; FE, familial early-onset Alzheimer's disease; FL, familial late-onset Alzheimer's disease; GRN, progranulin; MAPT, microtubule-associated protein tau; PSEN1, presenilin 1; SE, sporadic early-onset Alzheimer's disease; SL, sporadic late-onset Alzheimer's disease.