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1
|
PSEN2 Arg29His
(g.86G>A)
Not pathogenic
|
EX3
N-Term |
Guerreiro RJ, 2010
|
|  |
|
2
|
PSEN2 Gly34Ser
(g.100G>A)
Pathogenic nature unclear
|
EX3
N-Term |
Sleegers K, 2004
|
| |
|
3
|
PSEN2 Arg62Cys
(g.1838C>T)
Pathogenic nature unclear
|
EX4
N-Term |
Sleegers K, 2004
Ertekin-Taner N, 2008
Brouwers N, 2008
|
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|
4
|
PSEN2 Arg62His
(g.1839G>A)
Pathogenic nature unclear
|
EX4
N-Term |
Cruts M, 1998
Sleegers K, 2004
Ertekin-Taner N, 2008
Gallo M, 2009
Guerreiro RJ, 2010
|
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|
5
|
PSEN2 Arg71Trp
(g.1855C>T)
Pathogenic nature unclear
|
EX4
N-Term |
Sleegers K, 2004
Brouwers N, 2008
Guerreiro RJ, 2010
|
| |
|
6
|
PSEN2 Ala85Val
(g.1908C>T)
|
Ex4
N-Term |
Piscopo P, 2005
Piscopo P, 2008
|
| |
|
7
|
PSEN2 Thr122Pro
(g.3636A>C)
|
EX5
HL-I |
Finckh U, 2000
Finckh U, 2005
|
| |
|
8
|
PSEN2 Thr122Arg
(g.3637C>G)
|
EX5
HL-I |
Binetti G, 2003
|
| |
|
9
|
PSEN2 Ser130Leu
(g.3661C>T)
Pathogenic nature unclear
|
EX5
HL-I |
Sorbi S, 2002
Tedde A, 2003
Li D, 2006
Tomaino C, 2007
|
| |
|
10
|
PSEN2 Val139Met
(g.3687G>A)
Pathogenic nature unclear
|
EX5
HL-I |
Bernardi L, 2008
Gallo M, 2008
|
| |
|
11
|
PSEN2 Asn141Ile
(g.3694A>T)
|
EX5
TM-II |
Levy-Lahad E, 1995
Rogaev EI, 1995
Finckh U, 2005
|
| |
|
12
|
PSEN2 Leu143His
(g.3700T>A)
Not pathogenic
|
EX5
TM-II |
Guerreiro RJ, 2010
|
| |
|
13
|
PSEN2 Val148Ile
(g.3714G>A)
|
EX5
TM-II |
Beyer K, 1998
Lao JI, 1998
|
| |
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14
|
PSEN2 Arg163His
(g.3760G>A)
Not pathogenic
|
EX5
HL-II |
Dunø M, 2009
Puschmann A, 2009
|
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15
|
PSEN2 Met174Val
(g.6206A>G)
|
EX6
TM-III |
Clarimón J, 2008
Andreoli V, 2008
Guerreiro RJ, 2010
|
| |
|
16
|
PSEN2 Ser175Cys
(g.6210C>G)
|
EX6
TM-III |
Piscopo P, 2008
Piscopo P, 2008
Piscopo P, 2010
|
| |
|
17
|
PSEN2 Tyr231Cys
(g.7048A>G)
|
EX7
TM-V |
Marcon G, 2008
Marcon G, 2009
|
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18
|
PSEN2 Gln228Leu
(g.7039A>T)
|
EX7
TM-V |
Zekanowski C, 2003
|
| |
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19
|
PSEN2 Met239Val
(g.7071A>G)
|
EX7
TM-V |
Rogaev EI, 1995
Marcon G, 2004
|
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20
|
PSEN2 Met239Ile
(g.7073G>A)
|
EX7
TM-V |
Finckh U, 2000
Finckh U, 2000
|
| |
|
21
|
PSEN2 Ala252Thr
(g.7110G>A)
Not pathogenic
|
EX7
TM-VI |
Guerreiro RJ, 2010
|
| |
|
22
|
PSEN2 Pro334Arg
(g.9867C>G)
Not pathogenic
|
EX10
HL-VI b |
Lleo A, 2002
Lleo A, 2002
|
| |
|
23
|
PSEN2 Val393Met
(g.12205G>A)
Pathogenic nature unclear
|
EX11
TM-VIII |
Lindquist SG, 2008
Lindquist S, 2009
|
| |
|
24
|
PSEN2 Thr430Met
(g.13615C>T)
|
EX12
TM-IX |
Lleo A, 2002
Ezquerra M, 2003
|
| |
|
25
|
PSEN2 Asp439Ala
(g.13642A>C)
|
EX12
C-Term |
Lleo A, 2001
Lleo A, 2002
|
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