Mutation

Exon /
Domain

Citations

1

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

2

PSEN1 Val261Leu
   (g.49966G>C)

EX8
TM-VI

Jiménez Caballero PE, 2008
Gómez-Tortosa E, 2010

3

PSEN1 Val261Phe
   (g.49966G>T)

EX8
TM-VI

Farlow MR, 2000
Farlow MR, 2001
Rogaeva EA, 2001
Miravalle L, 2002

4

PSEN1 Leu262Phe
   (g.49971G>C)

EX8
TM-VI

Forsell C, 1997

5

PSEN1 Cys263Arg
   (g.49972T>C)

EX8
HL-VI a

Wasco W, 1995

6

PSEN1 Cys263Phe
   (g.49973G>T)

EX8
HL-VI a

Janssen JC, 2002
Janssen JC, 2003
Brouwers N, 2006

7

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

8

PSEN1 Gly266Ser
   (g.49981G>A)

EX8
HL-VI a

Matsubara-Tsutsui M, 2002
Akatsu H, 2008

9

PSEN1 Pro267Ser
   (g.49984C>T)

EX8
HL-VI a

Clark RF, 1995
Hutton M, 1996
Palmer MS, 1999

10

PSEN1 Pro267Leu
   (g.49985C>T)

EX8
HL-VI a

Kowalska A, 2003
Kowalska A, 2004
Kowalska A, 2004

11

PSEN1 Arg269Gly
   (g.49990C>G)

EX8
HL-VI a

Perez-Tur J, 1996
Doran M, 2004

12

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

13

PSEN1 Leu271Val
   (g.49996C>G)

EX8
HL-VI a

Kwok JB, 2003

14

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

15

PSEN1 Glu273Ala
   (g.50003A>C)

EX8
HL-VI a

Kamimura K, 1998

16

PSEN1 Thr274Arg
   (g.50006C>G)

EX8
HL-VI a

Rogaeva EA, 2001

17

PSEN1 Arg278Lys
   (g.50018G>A)

EX8
HL-VI a

Giliberto L, 2002
Assini A, 2003

18

PSEN1 Arg278Thr
   (g.50018G>C)

EX8
HL-VI a

Kwok JB, 1997

19

PSEN1 Arg278Ile
   (g.50018G>T)

EX8
HL-VI a

Godbolt AK, 2004

20

PSEN1 Arg278Ser
   (g.50019A>C)

EX8
HL-VI a

Raman A, 2007

21

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

22

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

23

PSEN1 Leu282Val
   (g.50029C>G)

EX8
HL-VI (MA)

Dermaut B, 2001

24

PSEN1 Leu282Phe
   (g.50029C>T)

EX8
HL-VI (MA)

Hamaguchi T, 2009

25

PSEN1 Leu282Arg
   (g.50030T>G)

EX8
HL-VI (MA)

Aldudo J, 1998
Aldudo J, 1999
Gómez-Tortosa E, 2010

26

PSEN1 Pro284Ser
   (g.50035C>T)

EX8
HL-VI (MA)

Marrosu MG, 2006

27

PSEN1 Pro284Leu
   (g.50036C>T)

EX8
HL-VI (MA)

Tabira T, 2002

28

PSEN1 Ala285Val
   (g.50039C>T)

EX8
HL-VI (MA)

Rogaev EI, 1995
Ikeda M, 1996
Aoki M, 1997

29

PSEN1 Leu286Val
   (g.50041C>G)

EX8
HL-VI (MA)

Sherrington R, 1995
Ikeuchi T, 2008

30

PSEN1 Leu286Pro
   (g.50042T>C)

EX8
HL-VI (MA)

Sánchez-Valle R, 2007