|  |
|
|
|
|
| |
|
1
|
PSEN1 Asn32
(g.22781T>C)
Pathogenic nature unclear
|
EX4
N-Term |
Scacchi R, 2007
|
|  |
|
2
|
PSEN1 Arg35Gln
(g.22789G>A)
Not pathogenic
|
EX4
N-Term |
Rogaeva EA, 2001
Raux G, 2005
Guerreiro RJ, 2010
|
| |
|
3
|
PSEN1 Ala79Val
(g.22921C>T)
|
EX4
N-Term |
Cruts M, 1998
Finckh U, 2000
Rogaeva EA, 2001
Miravalle L, 2002
Kauwe JS, 2007
|
| |
|
4
|
PSEN1 Val82Leu
(g.22929G>C)
|
EX4
TM-I |
Campion D, 1995
Campion D, 1999
|
| |
|
5
|
PSEN1 ΔI83/M84
(g.22932_22937delATCATG)
|
EX4
TM-I |
Houlden H, 2000
Steiner H, 2001
|
| |
|
6
|
PSEN1 Leu85Pro
(g.22939T>C)
|
EX4
TM-I |
Ataka S, 2004
|
| |
|
7
|
PSEN1 Val89Leu
(g.22950G>T)
|
EX4
TM-I |
Queralt R, 2002
Lleo A, 2002
|
| |
|
8
|
PSEN1 Cys92Ser
(g.22960G>C)
|
EX4
TM-I |
Sorbi S, 2002
Tedde A, 2003
|
| |
|
9
|
PSEN1 Val94Met
(g.22965G>A)
|
EX4
TM-I |
Jacquier M, 2000
Arango D, 2001
|
| |
|
10
|
PSEN1 Val96Phe
(g.22971G>T)
|
EX4
TM-I |
Kamino K, 1996
|
| |
|
11
|
PSEN1 Val97Leu
(g.22974G>T)
|
EX4
TM-I |
Jia J, 2005
Fang B, 2006
Fang BY, 2007
|
| |
|
12
|
PSEN1 Phe105Ile
(g.22998T>A)
|
EX4
HL-I |
Raux G, 2005
|
| |
|
13
|
PSEN1 Phe105Val
(g.22998T>G)
|
EX4
HL-I |
Gómez-Tortosa E, 2010
|
| |
|
14
|
PSEN1 Phe105Leu
(g.23000T>G)
|
EX4
HL-I |
Finckh U, 2000
|
| |
|
15
|
PSEN1 Leu113Gln
(g.23023T>A)
|
EX4
HL-I |
Finckh U, 2005
|
| |
|
16
|
PSEN1 Leu113Pro
(g.23023T>C)
|
EX4
HL-I |
Raux G, 2000
|
| |
|
17
|
PSEN1 Intron4; InsTAC
(g.23024delG)
|
IVS4
HL-I;
N-Term to C-Term;
N-Term to C-Term |
Tysoe C, 1998
De Jonghe C, 1999
Rogaeva EA, 2001
Janssen JC, 2002
Janssen JC, 2003
|
| |
|
18
|
PSEN1 Tyr115His
(g.25546T>C)
|
EX5
HL-I |
Campion D, 1995
Campion D, 1999
Finckh U, 2005
|
| |
|
19
|
PSEN1 Tyr115Asp
(g.25546T>G)
|
EX5
HL-I |
Bird TD, 2004
|
| |
|
20
|
PSEN1 Tyr115Cys
(g.25547A>G)
|
EX5
HL-I |
Cruts M, 1998
Rogaeva EA, 2001
Janssen JC, 2002
Janssen JC, 2003
Doran M, 2006
|
| |
|
21
|
PSEN1 Thr116Asn
(g.25550C>A)
|
EX5
HL-I |
Romero I, 1999
Rogaeva EA, 2001
Raux G, 2005
Guerreiro RJ, 2010
|
| |
|
22
|
PSEN1 Thr116Ile
(g.25550C>T)
|
EX5
HL-I |
La Bella V, 2004
Raux G, 2005
|
| |
|
23
|
PSEN1 Pro117Ala
(g.25552C>G)
|
EX5
HL-I |
Anheim M, 2007
Kauwe JS, 2008
|
| |
|
24
|
PSEN1 Pro117Ser
(g.25552C>T)
|
EX5
HL-I |
Dowjat K, 2002
Dowjat WK, 2004
|
| |
|
25
|
PSEN1 Pro117Arg
(g.25553C>G)
|
EX5
HL-I |
Zekanowski C, 2003
Gómez-Tortosa E, 2010
|
| |
|
26
|
PSEN1 Pro117Leu
(g.25553C>T)
|
EX5
HL-I |
Wisniewski T, 1998
Dowjat WK, 2004
Alberici A, 2007
|
| |
|
27
|
PSEN1 Glu120Lys
(g.25561G>A)
|
EX5
HL-I |
Hutton M, 1996
Lindquist S, 2009
|
| |
|
28
|
PSEN1 Glu120Gly
(g.25562A>G)
|
EX5
HL-I |
Lladó A, 2010
Gómez-Tortosa E, 2010
|
| |
|
29
|
PSEN1 Glu120Asp
(g.25563A>C)
|
EX5
HL-I |
Poorkaj P, 1998
Campion D, 1999
Raux G, 2005
|
| |
|
30
|
PSEN1 Glu120Asp
(g.25563A>T)
|
EX5
HL-I |
Reznik-Wolf H, 1996
Reznik-Wolf H, 1996
|
| |
|
31
|
PSEN1 Glu123Lys
(g.25570G>A)
|
EX5
HL-I |
Yasuda M, 1999
|
| |
|
32
|
PSEN1 Asn135Asp
(g.25606A>G)
|
EX5
TM-II |
Crook R, 1997
|
| |
|
33
|
PSEN1 Asn135Ser
(g.25607A>G)
|
EX5
TM-II |
Finckh U, 2005
Rudzinski LA, 2006
|
| |
|
34
|
PSEN1 Ala136Gly
(g.25610C>G)
|
EX5
TM-II |
Fang BY, 2007
|
| |
|
35
|
PSEN1 Met139Val
(g.25618A>G)
|
EX5
TM-II |
Clark RF, 1995
Boteva K, 1996
Hutton M, 1996
Sandbrink R, 1996
Fox NC, 1997
Hüll M, 1998
Palmer MS, 1999
Finckh U, 2000
Larner AJ, 2003
Rippon GA, 2003
Zekanowski C, 2003
|
| |
|
36
|
PSEN1 Met139Lys
(g.25619T>A)
|
EX5
TM-II |
Dumanchin C, 1998
|
| |
|
37
|
PSEN1 Met139Thr
(g.25619T>C)
|
EX5
TM-II |
Campion D, 1995
Campion D, 1999
Queralt R, 2001
Lleo A, 2002
|
| |
|
38
|
PSEN1 Met139Ile
(g.25620G>A)
|
EX5
TM-II |
Boteva K, 1996
|
| |
|
39
|
PSEN1 Met139Ile
(g.25620G>C)
|
EX5
TM-II |
Kim HJ, 2010
|
| |
|
40
|
PSEN1 Ile143Val
(g.25630A>G)
|
EX5
TM-II |
Gallo M, 2011
|
| |
|
41
|
PSEN1 Ile143Phe
(g.25630A>T)
|
EX5
TM-II |
Rossor MN, 1996
Palmer MS, 1999
|
| |
|
42
|
PSEN1 Ile143Asn
(g.25631T>A)
|
EX5
TM-II |
Raux G, 2005
|
| |
|
43
|
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
|
| |
|
44
|
PSEN1 Ile143Met
(g.25632T>G)
|
EX5
TM-II |
Heckmann J, 2002
|
| |
|
45
|
PSEN1 Met146Leu
(g.25639A>C)
|
EX5
TM-II |
Sherrington R, 1995
Sorbi S, 1995
Clark RF, 1995
Campion D, 1999
Terreni L, 2000
Rogaeva EA, 2001
Halliday GM, 2005
Finckh U, 2005
Bruni AC, 2010
Swerdlow RH, 2010
|
| |
|
46
|
PSEN1 Met146Val
(g.25639A>G)
|
EX5
TM-II |
Clark RF, 1995
Cervenakova L, 1996
Rogaeva EA, 2001
|
| |
|
47
|
PSEN1 Met146Leu
(g.25639A>T)
|
EX5
TM-II |
Morelli L, 1998
Rogaeva EA, 2001
|
| |
|
48
|
PSEN1 Met146Ile
(g.25641G>A)
|
EX5
TM-II |
Cervenakova L, 1996
Jorgensen P, 1996
Janssen JC, 2002
Janssen JC, 2003
Lindquist S, 2009
|
| |
|
49
|
PSEN1 Met146Ile
(g.25641G>C)
|
EX5
TM-II |
Gustafson L, 1998
|
| |
|
50
|
PSEN1 Met146Ile
(g.25641G>T)
|
EX5
TM-II |
Rogaeva EA, 2001
|
| |
|
51
|
PSEN1 Thr147Ile
(g.25643C>T)
|
EX5
TM-II |
Campion D, 1999
|
| |
|
52
|
PSEN1 Leu153Val
(g.25660C>G)
|
EX5
TM-II |
Raux G, 2000
Janssen JC, 2001
Janssen JC, 2002
Janssen JC, 2003
Raux G, 2005
|
| |
|
53
|
PSEN1 Tyr154Asn
(g.25663T>A)
|
EX5
TM-II |
Hattori S, 2004
|
| |
|
54
|
PSEN1 Tyr154Cys
(g.25664A>G)
|
EX5
TM-II |
Janssen JC, 2002
Janssen JC, 2003
|
| |
|
55
|
PSEN1 InsFI
(g.25669_25670insTTATAT)
|
EX5
HL-II |
Rogaeva EA, 2001
Moretti P, 2004
|
| |
|
56
|
PSEN1 His163Tyr
(g.38784C>T)
|
EX6
HL-II |
Clark RF, 1995
Axelman K, 1998
|
| |
|
57
|
PSEN1 His163Arg
(g.38785A>G)
|
EX6
HL-II |
Campion D, 1995
Sherrington R, 1995
Tanahashi H, 1995
Boteva K, 1996
Kamino K, 1996
Poduslo SE, 1996
Cervenakova L, 1996
Reznik-Wolf H, 1996
Tanahashi H, 1996
Poorkaj P, 1998
Kamimura K, 1998
Campion D, 1999
Rogaeva EA, 2001
Lleo A, 2002
Zekanowski C, 2003
Gómez-Tortosa E, 2008
Gómez-Tortosa E, 2010
|
| |
|
58
|
PSEN1 Trp165Gly
(g.38790T>G)
|
EX6
TM-III |
Higuchi S, 2000
|
| |
|
59
|
PSEN1 Trp165Cys
(g.38792G>C)
|
EX6
TM-III |
Campion D, 1999
|
| |
|
60
|
PSEN1 Leu166del
(g.38793_38795delCTT)
|
EX6
TM-III |
Knight WD, 2007
|
| |
|
61
|
PSEN1 Leu166His
(g.38794T>A)
|
EX6
TM-III |
Pantieri R, 2005
|
| |
|
62
|
PSEN1 Leu166Pro
(g.38794T>C)
|
EX6
TM-III |
Moehlmann T, 2002
Miravalle L, 2002
|
| |
|
63
|
PSEN1 Leu166Arg
(g.38794T>G)
|
EX6
TM-III |
Ezquerra M, 2000
Lleo A, 2002
|
| |
|
64
|
PSEN1 ΔI167;ΔI168
(g.38798_38800delTAT)
|
EX6
TM-III |
Janssen JC, 2002
Janssen JC, 2003
|
| |
|
65
|
PSEN1 Ser169Pro
(g.38802T>C)
|
EX6
TM-III |
Ezquerra M, 1999
Lleo A, 2002
|
| |
|
66
|
PSEN1 Ser169Leu
(g.38803C>T)
|
EX6
TM-III |
Taddei K, 1998
Takao M, 2001
Miravalle L, 2002
|
| |
|
67
|
PSEN1 Ser169del;ΔS169;ΔS170
(g.38804_38806delATC)
|
EX6
TM-III |
Guo J, 2010
|
| |
|
68
|
PSEN1 Ser170Phe
(g.38806C>T)
|
EX6
TM-III |
Snider BJ, 2005
Golan MP, 2007
Piccini A, 2007
Golan MP, 2007
|
| |
|
69
|
PSEN1 Leu171Pro
(g.38809T>C)
|
EX6
TM-III |
Ramirez-Duenas MG, 1998
Janssen JC, 2002
Janssen JC, 2003
|
| |
|
70
|
PSEN1 Leu173Trp
(g.38815T>G)
|
EX6
TM-III |
Campion D, 1999
|
| |
|
71
|
PSEN1 Leu173Phe
(g.38816G>C)
|
EX6
TM-III |
Kasuga K, 2009
|
| |
|
72
|
PSEN1 Leu174Met
(g.38817C>A)
|
EX6
TM-III |
Bertoli-Avella AM, 2002
Sorbi S, 2002
Bertoli Avella AM, 2002
|
| |
|
73
|
PSEN1 Leu174Arg
(g.38818T>G)
|
EX6
TM-III |
Klunemann HH, 2004
|
| |
|
74
|
PSEN1 Phe175Ser
(g.38821T>C)
Not pathogenic
|
EX6
TM-III |
Colacicco AM, 2002
|
| |
|
75
|
PSEN1 Phe177Leu
(g.38826T>C)
|
EX6
TM-III |
Rogaeva EA, 2001
Raux G, 2005
|
| |
|
76
|
PSEN1 Phe177Ser
(g.38827T>C)
|
EX6
TM-III |
Rogaeva EA, 2001
|
| |
|
77
|
PSEN1 Ser178Pro
(g.38829T>C)
|
EX6
TM-III |
Rogaeva EA, 2001
|
| |
|
78
|
PSEN1 Gly183Val
(g.38845G>T)
|
EX6
HL-III |
Dermaut B, 2004
|
| |
|
79
|
PSEN1 Glu184Asp
(g.44571A>C)
|
EX7
HL-III |
Yasuda M, 1997
Janssen JC, 2002
Janssen JC, 2003
|
| |
|
80
|
PSEN1 Val191Ala
(g.44591T>C)
Not pathogenic
|
EX7
HL-III |
Guerreiro RJ, 2010
|
| |
|
81
|
PSEN1 Gly206Ser
(g.44635G>A)
|
EX7
TM-IV |
Rogaeva EA, 2001
Raux G, 2005
Park HK, 2008
|
| |
|
82
|
PSEN1 Gly206Asp
(g.44636G>A)
|
EX7
TM-IV |
Raux G, 2005
|
| |
|
83
|
PSEN1 Gly206Ala
(g.44636G>C)
|
EX7
TM-IV |
Rogaeva EA, 2001
Athan ES, 2001
|
| |
|
84
|
PSEN1 Gly206Val
(g.44636G>T)
|
EX7
TM-IV |
Goldman JS, 2002
|
| |
|
85
|
PSEN1 Gly209Arg
(g.44644G>A)
|
EX7
TM-IV |
Sugiyama N, 1999
|
| |
|
86
|
PSEN1 Gly209Glu
(g.44645G>A)
|
EX7
TM-IV |
Rogaeva EA, 2001
|
| |
|
87
|
PSEN1 Gly209Val
(g.44645G>T)
|
EX7
TM-IV |
Poorkaj P, 1998
|
| |
|
88
|
PSEN1 Ser212Tyr
(g.44654C>A)
|
EX7
TM-IV |
Ringman JM, 2011
|
| |
|
89
|
PSEN1 Ile213Leu
(g.44656A>C)
|
EX7
TM-IV |
Rogaeva EA, 2001
|
| |
|
90
|
PSEN1 Ile213Phe
(g.44656A>T)
|
EX7
TM-IV |
Zekanowski C, 2003
|
| |
|
91
|
PSEN1 Ile213Thr
(g.44657T>C)
|
EX7
TM-IV |
Kamino K, 1996
|
| |
|
92
|
PSEN1 His214Asp
(g.44659C>G)
|
EX7
HL-IV |
Clarimón J, 2008
Guerreiro RJ, 2010
|
| |
|
93
|
PSEN1 His214Tyr
(g.44659C>T)
|
EX7
HL-IV |
Raux G, 2005
|
| |
|
94
|
PSEN1 Gly217Arg
(g.44668G>C)
|
EX7
HL-IV |
Norton JB, 2009
|
| |
|
95
|
PSEN1 Gly217Asp
(g.44669G>A)
|
EX7
HL-IV |
Miravalle L, 2002
Takao M, 2002
|
| |
|
96
|
PSEN1 Leu219Phe
(g.44674C>T)
|
EX7
HL-IV |
Terreni L, 2000
|
| |
|
97
|
PSEN1 Leu219Pro
(g.44675T>C)
|
EX7
HL-IV |
Smith MJ, 1999
|
| |
|
98
|
PSEN1 Gln222Arg
(g.44684A>G)
|
EX7
TM-V |
Rogaeva EA, 2001
|
| |
|
99
|
PSEN1 Gln222His
(g.44685G>C)
|
EX7
TM-V |
Miklossy J, 2003
|
| |
|
100
|
PSEN1 Gln223Arg
(g.44687A>G)
|
EX7
TM-V |
Uttner I, 2010
|
| |
|
101
|
PSEN1 Leu226Phe
(g.44695C>T)
|
EX7
TM-V |
Golan M, 2005
Zekanowski C, 2006
Gómez-Tortosa E, 2010
|
| |
|
102
|
PSEN1 Leu226Arg
(g.44696T>G)
|
EX7
TM-V |
Coleman P, 2004
|
| |
|
103
|
PSEN1 Ile229Phe
(g.44704A>T)
|
EX7
TM-V |
Janssen JC, 2002
Janssen JC, 2003
|
| |
|
104
|
PSEN1 Ala231Thr
(g.44710G>A)
|
EX7
TM-V |
Campion D, 1995
Campion D, 1999
Rogaeva EA, 2001
|
| |
|
105
|
PSEN1 Ala231Val
(g.44711C>T)
|
EX7
TM-V |
Cruts M, 1998
|
| |
|
106
|
PSEN1 Met233Leu
(g.44716A>C)
|
EX7
TM-V |
Aldudo J, 1999
Rogaeva EA, 2001
|
| |
|
107
|
PSEN1 Met233Val
(g.44716A>G)
|
EX7
TM-V |
Houlden H, 2001
|
| |
|
108
|
PSEN1 Met233Leu
(g.44716A>T)
|
EX7
TM-V |
Mendez MF, 2006
|
| |
|
109
|
PSEN1 Met233Thr
(g.44717T>C)
|
EX7
TM-V |
Kwok JB, 1997
Campion D, 1999
Raux G, 2005
Park HK, 2008
Guerreiro RJ, 2010
|
| |
|
110
|
PSEN1 Met233Ile
(g.44718G>C)
|
EX7
TM-V |
Portet F, 2003
|
| |
|
111
|
PSEN1 Leu235Val
(g.44722C>G)
|
EX7
TM-V |
Janssen JC, 2002
Janssen JC, 2003
|
| |
|
112
|
PSEN1 Leu235Pro
(g.44723T>C)
|
EX7
TM-V |
Campion D, 1996
Campion D, 1999
Rogaeva EA, 2001
Finckh U, 2005
|
| |
|
113
|
PSEN1 Phe237Ile
(g.44728T>A)
|
EX7
TM-V |
Sodeyama N, 2001
|
| |
|
114
|
PSEN1 Phe237Leu
(g.44728T>C)
|
EX7
TM-V |
Janssen JC, 2002
Janssen JC, 2003
|
| |
|
115
|
PSEN1 Ile238Met
(g.44733C>G)
Pathogenic nature unclear
|
EX7
TM-V |
Ringman JM, 2011
|
| |
|
116
|
PSEN1 Lys239Asn
(g.44736G>C)
|
EX7
HL-V |
Lladó A, 2010
|
| |
|
117
|
PSEN1 Thr245Pro
(g.44752A>C)
|
EX7
TM-VI |
Edwards-Lee T, 2006
|
| |
|
118
|
PSEN1 Ala246Glu
(g.44756C>A)
|
EX7
TM-VI |
Sherrington R, 1995
Kowalska A, 2003
Kowalska A, 2004
Kowalska A, 2004
Gliebus G, 2009
|
| |
|
119
|
PSEN1 Leu248Arg
(g.44762T>G)
|
EX7
TM-VI |
Clarimón J, 2008
Guerreiro RJ, 2010
|
| |
|
120
|
PSEN1 Leu250Val
(g.44767T>G)
|
EX7
TM-VI |
Furuya H, 2003
Mehrabian S, 2005
|
| |
|
121
|
PSEN1 Leu250Ser
(g.44768T>C)
|
EX7
TM-VI |
Hutton M, 1996
Harvey RJ, 1998
|
| |
|
122
|
PSEN1 Tyr256Ser
(g.44786A>C)
|
EX7
TM-VI |
Miklossy J, 2003
|
| |
|
123
|
PSEN1 Ala260Val
(g.49964C>T)
|
EX8
TM-VI |
Rogaev EI, 1995
Ikeda M, 1996
Poorkaj P, 1998
Janssen JC, 2002
Janssen JC, 2003
Guerreiro RJ, 2010
|
| |
|
124
|
PSEN1 Val261Leu
(g.49966G>C)
|
EX8
TM-VI |
Jiménez Caballero PE, 2008
Gómez-Tortosa E, 2010
|
| |
|
125
|
PSEN1 Val261Phe
(g.49966G>T)
|
EX8
TM-VI |
Farlow MR, 2000
Farlow MR, 2001
Rogaeva EA, 2001
Miravalle L, 2002
|
| |
|
126
|
PSEN1 Leu262Phe
(g.49971G>C)
|
EX8
TM-VI |
Forsell C, 1997
|
| |
|
127
|
PSEN1 Cys263Arg
(g.49972T>C)
|
EX8
HL-VI a |
Wasco W, 1995
|
| |
|
128
|
PSEN1 Cys263Phe
(g.49973G>T)
|
EX8
HL-VI a |
Janssen JC, 2002
Janssen JC, 2003
Brouwers N, 2006
|
| |
|
129
|
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
|
| |
|
130
|
PSEN1 Gly266Ser
(g.49981G>A)
|
EX8
HL-VI a |
Matsubara-Tsutsui M, 2002
Akatsu H, 2008
|
| |
|
131
|
PSEN1 Pro267Ser
(g.49984C>T)
|
EX8
HL-VI a |
Clark RF, 1995
Hutton M, 1996
Palmer MS, 1999
|
| |
|
132
|
PSEN1 Pro267Leu
(g.49985C>T)
|
EX8
HL-VI a |
Kowalska A, 2003
Kowalska A, 2004
Kowalska A, 2004
|
| |
|
133
|
PSEN1 Arg269Gly
(g.49990C>G)
|
EX8
HL-VI a |
Perez-Tur J, 1996
Doran M, 2004
|
| |
|
134
|
PSEN1 Arg269His
(g.49991G>A)
|
EX8
HL-VI a |
Gomez-Isla T, 1997
Kamimura K, 1998
Janssen JC, 2002
Janssen JC, 2003
Larner AJ, 2006
Larner AJ, 2007
|
| |
|
135
|
PSEN1 Leu271Val
(g.49996C>G)
|
EX8
HL-VI a |
Kwok JB, 2003
|
| |
|
136
|
PSEN1 Val272Ala
(g.50000T>C)
|
EX8
HL-VI a |
Jimenez-Escrig A, 2002
Jimenez-Escrig A, 2002
Jimenez-Escrig A, 2004
Guerreiro RJ, 2010
Gómez-Tortosa E, 2010
|
| |
|
137
|
PSEN1 Glu273Ala
(g.50003A>C)
|
EX8
HL-VI a |
Kamimura K, 1998
|
| |
|
138
|
PSEN1 Thr274Arg
(g.50006C>G)
|
EX8
HL-VI a |
Rogaeva EA, 2001
|
| |
|
139
|
PSEN1 Arg278Lys
(g.50018G>A)
|
EX8
HL-VI a |
Giliberto L, 2002
Assini A, 2003
|
| |
|
140
|
PSEN1 Arg278Thr
(g.50018G>C)
|
EX8
HL-VI a |
Kwok JB, 1997
|
| |
|
141
|
PSEN1 Arg278Ile
(g.50018G>T)
|
EX8
HL-VI a |
Godbolt AK, 2004
|
| |
|
142
|
PSEN1 Arg278Ser
(g.50019A>C)
|
EX8
HL-VI a |
Raman A, 2007
|
| |
|
143
|
PSEN1 Glu280Ala
(g.50024A>C)
|
EX8
HL-VI (MA) |
Clark RF, 1995
Tanahashi H, 1996
Kwok JB, 1997
Lendon CL, 1997
Jacquier M, 2000
Arango D, 2001
|
| |
|
144
|
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
|
| |
|
145
|
PSEN1 Leu282Val
(g.50029C>G)
|
EX8
HL-VI (MA) |
Dermaut B, 2001
|
| |
|
146
|
PSEN1 Leu282Phe
(g.50029C>T)
|
EX8
HL-VI (MA) |
Hamaguchi T, 2009
|
| |
|
147
|
PSEN1 Leu282Arg
(g.50030T>G)
|
EX8
HL-VI (MA) |
Aldudo J, 1998
Aldudo J, 1999
Gómez-Tortosa E, 2010
|
| |
|
148
|
PSEN1 Pro284Ser
(g.50035C>T)
|
EX8
HL-VI (MA) |
Marrosu MG, 2006
|
| |
|
149
|
PSEN1 Pro284Leu
(g.50036C>T)
|
EX8
HL-VI (MA) |
Tabira T, 2002
|
| |
|
150
|
PSEN1 Ala285Val
(g.50039C>T)
|
EX8
HL-VI (MA) |
Rogaev EI, 1995
Ikeda M, 1996
Aoki M, 1997
|
| |
|
151
|
PSEN1 Leu286Val
(g.50041C>G)
|
EX8
HL-VI (MA) |
Sherrington R, 1995
Ikeuchi T, 2008
|
| |
|
152
|
PSEN1 Leu286Pro
(g.50042T>C)
|
EX8
HL-VI (MA) |
Sánchez-Valle R, 2007
|
| |
|
153
|
PSEN1 Δ9
(g.56305_62162del)
|
IVS8-IVS9
HL-VI (MA) |
Kwok JB, 1997
Kwok JBJ, 2000
Smith MJ, 2001
Halliday GM, 2005
|
| |
|
154
|
PSEN1 Δ9Finn
(g.56681_61235del)
|
IVS8-IVS9
HL-VI (MA) |
Crook R, 1998
Prihar G, 1999
Verkkoniemi A, 2000
Hiltunen M, 2000
Houlden H, 2000
|
| |
|
155
|
PSEN1 869-22_869-23ins18
(g.58282_58283ins18)
|
IVS8
HL-VI (MA) |
Dumanchin C, 2006
|
| |
|
156
|
PSEN1 Δ9
(g.58304G>A)
|
IVS8
HL-VI (MA) |
Sato S, 1998
Kwok JBJ, 2000
Tabira T, 2002
Brooks WS, 2003
|
| |
|
157
|
PSEN1 Δ9
(g.58304G>T)
|
IVS8
HL-VI (MA) |
Perez-Tur J, 1995
Hutton M, 1996
Kwok JB, 1997
Kwok JBJ, 2000
Rogaeva EA, 2001
Brooks WS, 2003
Halliday GM, 2005
|
| |
|
158
|
PSEN1 Thr291Pro
(g.58306A>C)
|
EX9
HL-VI (MA) |
Dumanchin C, 2006
|
| |
|
159
|
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
|
| |
|
160
|
PSEN1 InsR352
(g.63786_63787insTCG)
Pathogenic nature unclear
|
EX10
HL-VI b |
Rogaeva EA, 2001
Tang-Wai D, 2002
Amtul Z, 2002
Pickering-Brown SM, 2006
|
| |
|
161
|
PSEN1 Thr354Ile
(g.63792C>T)
Pathogenic nature unclear
|
EX10
HL-VI b |
Rogaeva EA, 2001
Lee P, 2006
|
| |
|
162
|
PSEN1 Arg358Gln
(g.63804G>A)
|
EX10
HL-VI b |
Rogaeva EA, 2001
|
| |
|
163
|
PSEN1 Ser365Ala
(g.63824T>G)
|
EX10
HL-VI b |
Clarimón J, 2008
Guerreiro RJ, 2010
|
| |
|
164
|
PSEN1 Ser365Tyr
(g.63825C>A)
Pathogenic nature unclear
|
EX10
HL-VI b |
Rogaeva EA, 2001
|
| |
|
165
|
PSEN1 Asp333Gly
(g.63729A>G)
Pathogenic nature unclear
|
EX10
HL-VI b |
Li D, 2006
|
| |
|
166
|
PSEN1 Arg377Met
(g.69044G>T)
|
EX11
TM-VII |
Janssen JC, 2002
Janssen JC, 2003
|
| |
|
167
|
PSEN1 Gly378Glu
(g.69047G>A)
|
EX11
TM-VII |
Besançon R, 1998
Finckh U, 2005
Ikeuchi T, 2008
|
| |
|
168
|
PSEN1 Gly378Val
(g.69047G>T)
|
EX11
TM-VII |
Janssen JC, 2002
Janssen JC, 2003
|
| |
|
169
|
PSEN1 Leu381Val
(g.69055C>G)
|
EX11
TM-VII |
Mehrabian S, 2004
Ikeuchi T, 2008
Traykov DL, 2009
|
| |
|
170
|
PSEN1 Gly384Ala
(g.69065G>C)
|
EX11
TM-VII |
Cruts M, 1995
Tanahashi H, 1996
Kamimura K, 1998
|
| |
|
171
|
PSEN1 Phe386Ser
(g.69071T>C)
|
EX11
TM-VII |
Raux G, 2005
|
| |
|
172
|
PSEN1 Ser390Ile
(g.69083G>T)
|
EX11
TM-VII |
Campion D, 1999
|
| |
|
173
|
PSEN1 Val391Phe
(g.69085G>T)
|
EX11
TM-VII |
Raux G, 2005
|
| |
|
174
|
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
|
| |
|
175
|
PSEN1 Leu392Pro
(g.69089T>C)
|
EX11
TM-VII |
Tedde A, 2000
Sorbi S, 2002
|
| |
|
176
|
PSEN1 Gly394Val
(g.69095G>T)
|
EX11
TM-VII |
Rogaeva EA, 2001
Batelli S, 2008
|
| |
|
177
|
PSEN1 Asn405Ser
(g.69128A>G)
|
EX11
HL-VII |
Yasuda M, 2000
|
| |
|
178
|
PSEN1 Ala409Thr
(g.69139G>A)
|
EX11
TM-VIII |
Aldudo J, 1999
|
| |
|
179
|
PSEN1 Cys410Tyr
(g.69143G>A)
|
EX11
TM-VIII |
Campion D, 1995
Sherrington R, 1995
Cervenakova L, 1996
Poorkaj P, 1998
Campion D, 1999
|
| |
|
180
|
PSEN1 Val412Ile
(g.69148G>A)
|
EX11
TM-VIII |
Bernardi L, 2009
|
| |
|
181
|
PSEN1 Leu381Val
(g.69118C>G)
Pathogenic nature unclear
|
EX11
TM-VII |
Traykov L, 2009
|
| |
|
182
|
PSEN1 Leu418Phe
(g.71058G>T)
|
EX12
TM-VIII |
Rogaeva EA, 2001
|
| |
|
183
|
PSEN1 Leu420Arg
(g.71063T>G)
|
EX12
TM-VIII |
Shrimpton AE, 2007
|
| |
|
184
|
PSEN1 Leu424Val
(g.71074C>G)
|
EX12
TM-VIII |
Robles A, 2009
|
| |
|
185
|
PSEN1 Leu424Phe
(g.71074C>T)
|
EX12
TM-VIII |
Mehrabian S, 2006
|
| |
|
186
|
PSEN1 Leu424His
(g.71075T>A)
|
EX12
TM-VIII |
Golan M, 2005
Raux G, 2005
Zekanowski C, 2006
|
| |
|
187
|
PSEN1 Leu424Arg
(g.71075T>G)
|
EX12
TM-VIII |
Kowalska A, 2003
Kowalska A, 2004
Kowalska A, 2004
|
| |
|
188
|
PSEN1 Ala426Pro
(g.71080G>C)
|
EX12
TM-VIII |
Poorkaj P, 1998
|
| |
|
189
|
PSEN1 Ala431Glu
(g.71096C>A)
|
EX12
HL-VIII |
Rogaeva EA, 2001
Miravalle L, 2002
Lee P, 2006
Yescas P, 2006
Murrell J, 2006
|
| |
|
190
|
PSEN1 Ala431Val
(g.71096C>T)
|
EX12
HL-VIII |
Matsushita S, 2002
|
| |
|
191
|
PSEN1 Ala434Cys
(g.[71104G>T;71105C>G])
|
EX12
TM-IX |
Devi G, 2000
Rogaeva EA, 2001
|
| |
|
192
|
PSEN1 Leu435Phe
(g.71107C>T)
|
EX12
TM-IX |
Rogaeva EA, 2001
|
| |
|
193
|
PSEN1 Pro436Ser
(g.71110C>T)
|
EX12
TM-IX |
Palmer MS, 1999
|
| |
|
194
|
PSEN1 Pro436Gln
(g.71111C>A)
|
EX12
TM-IX |
Taddei K, 1998
Houlden H, 2000
Beck JA, 2004
|
| |
|
195
|
PSEN1 Ile439Val
(g.71119A>G)
Pathogenic nature unclear
|
EX12
TM-IX |
Rogaeva EA, 2001
|
| |
|
196
|
PSEN1 Ile439Ser
(g.71120T>G)
|
EX12
TM-IX |
Gómez-Tortosa E, 2010
|
| |
|
197
|
PSEN1 ΔT440
(g.71122_71124delACC)
|
EX12
TM-IX |
Ishikawa A, 2005
|
| |
