|
Mutations in
APP
|  |
|
|
|
|
| |
|
1
|
APP Thr714Ile, Austrian APP
(g.275333C>T)
|
EX17
TM-I |
De Jonghe C, 2000
Kumar-Singh S, 2000
De Jonghe C, 2001
Edwards-Lee T, 2005
Raux G, 2005
|
|  |
|
2
|
APP Val717Ile; London APP
(g.275341G>A)
|
EX17
TM-I |
Goate A, 1991
Naruse S, 1991
Hardy J, 1991
Yoshioka K, 1991
Fidani L, 1992
Sorbi S, 1993
Yoshizawa T, 1993
Sorbi S, 1995
Brooks WS, 1995
Matsumura Y, 1996
Campion D, 1996
Campion D, 1999
Finckh U, 2000
De Jonghe C, 2001
Janssen JC, 2002
Janssen JC, 2003
Tedde A, 2003
Finckh U, 2005
Raux G, 2005
Brouwers N, 2006
|
| |
Mutations in
PSEN1
| |
|
|
|
|
| |
|
1
|
PSEN1 Arg35Gln
(g.22789G>A)
Not pathogenic
|
EX4
N-Term |
Rogaeva EA, 2001
Raux G, 2005
Guerreiro RJ, 2010
|
| |
|
2
|
PSEN1 Phe105Ile
(g.22998T>A)
|
EX4
HL-I |
Raux G, 2005
|
| |
|
3
|
PSEN1 Thr116Asn
(g.25550C>A)
|
EX5
HL-I |
Romero I, 1999
Rogaeva EA, 2001
Raux G, 2005
Guerreiro RJ, 2010
|
| |
|
4
|
PSEN1 Thr116Ile
(g.25550C>T)
|
EX5
HL-I |
La Bella V, 2004
Raux G, 2005
|
| |
|
5
|
PSEN1 Glu120Asp
(g.25563A>C)
|
EX5
HL-I |
Poorkaj P, 1998
Campion D, 1999
Raux G, 2005
|
| |
|
6
|
PSEN1 Ile143Asn
(g.25631T>A)
|
EX5
TM-II |
Raux G, 2005
|
| |
|
7
|
PSEN1 Ile143Thr
(g.25631T>C)
|
EX5
TM-II |
Cruts M, 1995
Rogaeva EA, 2001
Arango D, 2001
Miravalle L, 2002
Raux G, 2005
Arai N, 2008
|
| |
|
8
|
PSEN1 Leu153Val
(g.25660C>G)
|
EX5
TM-II |
Raux G, 2000
Janssen JC, 2001
Janssen JC, 2002
Janssen JC, 2003
Raux G, 2005
|
| |
|
9
|
PSEN1 Phe177Leu
(g.38826T>C)
|
EX6
TM-III |
Rogaeva EA, 2001
Raux G, 2005
|
| |
|
10
|
PSEN1 Gly206Ser
(g.44635G>A)
|
EX7
TM-IV |
Rogaeva EA, 2001
Raux G, 2005
Park HK, 2008
|
| |
|
11
|
PSEN1 Gly206Asp
(g.44636G>A)
|
EX7
TM-IV |
Raux G, 2005
|
| |
|
12
|
PSEN1 His214Tyr
(g.44659C>T)
|
EX7
HL-IV |
Raux G, 2005
|
| |
|
13
|
PSEN1 Met233Thr
(g.44717T>C)
|
EX7
TM-V |
Kwok JB, 1997
Campion D, 1999
Raux G, 2005
Park HK, 2008
Guerreiro RJ, 2010
|
| |
|
14
|
PSEN1 Pro264Leu
(g.49976C>T)
|
EX8
HL-VI a |
Campion D, 1995
Wasco W, 1995
Kwok JB, 1997
Poorkaj P, 1998
Campion D, 1999
Jacquemont ML, 2002
Miravalle L, 2002
Raux G, 2005
Dumanchin C, 2006
Martikainen P, 2010
|
| |
|
15
|
PSEN1 Glu280Gly
(g.50024A>G)
|
EX8
HL-VI (MA) |
Clark RF, 1995
Hutton M, 1996
O'Riordan S, 2002
Rogaeva E, 2003
Raux G, 2005
Dumanchin C, 2006
|
| |
|
16
|
PSEN1 Glu318Gly
(g.58389A>G)
Not pathogenic
|
EX9
HL-VI b |
Sandbrink R, 1996
Cruts M, 1998
Aldudo J, 1998
Mattila KM, 1998
Dermaut B, 1999
Helisalmi S, 2000
Goldman JS, 2005
Raux G, 2005
Batelli S, 2008
Bernardi L, 2008
Gallo M, 2008
Lindquist S, 2009
|
| |
|
17
|
PSEN1 Phe386Ser
(g.69071T>C)
|
EX11
TM-VII |
Raux G, 2005
|
| |
|
18
|
PSEN1 Val391Phe
(g.69085G>T)
|
EX11
TM-VII |
Raux G, 2005
|
| |
|
19
|
PSEN1 Leu392Val
(g.69088C>G)
|
EX11
TM-VII |
Campion D, 1995
Campion D, 1995
Rogaev EI, 1995
Campion D, 1999
Raux G, 2005
Ikeuchi T, 2008
|
| |
|
20
|
PSEN1 Leu424His
(g.71075T>A)
|
EX12
TM-VIII |
Golan M, 2005
Raux G, 2005
Zekanowski C, 2006
|
| |
Selection: Publication ID = 376
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