Alzheimer Disease & Frontotemporal Dementia Mutation Database

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Mutations in PSEN2

Mutation

Exon /
Domain

Citations

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

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

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

14

PSEN2 Arg163His
   (g.3760G>A)

   Not pathogenic

EX5
HL-II

Dunø M, 2009
Puschmann A, 2009

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

18

PSEN2 Gln228Leu
   (g.7039A>T)

EX7
TM-V

Zekanowski C, 2003

19

PSEN2 Met239Val
   (g.7071A>G)

EX7
TM-V

Rogaev EI, 1995
Marcon G, 2004

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


Selection: Gene = PSEN2



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