Alzheimer Disease & Frontotemporal Dementia Mutation Database

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Mutations in PSEN1

Mutation

Exon /
Domain

Citations

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


Selection: Gene = PSEN1



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