Mutation

Exon /
Domain

Citations

1

PSEN1 Arg35Gln
   (g.22789G>A)
   Not pathogenic

EX4
N-Term

Rogaeva EA, 2001
Raux G, 2005
Guerreiro RJ, 2010

2

PSEN1 Ala79Val
   (g.22921C>T)

EX4
N-Term

Cruts M, 1998
Finckh U, 2000
Rogaeva EA, 2001
Miravalle L, 2002
Kauwe JS, 2007

3

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

4

PSEN1 Tyr115Cys
   (g.25547A>G)

EX5
HL-I

Cruts M, 1998
Rogaeva EA, 2001
Janssen JC, 2002
Janssen JC, 2003
Doran M, 2006

5

PSEN1 Thr116Asn
   (g.25550C>A)

EX5
HL-I

Romero I, 1999
Rogaeva EA, 2001
Raux G, 2005
Guerreiro RJ, 2010

6

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

7

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

8

PSEN1 Met146Val
   (g.25639A>G)

EX5
TM-II

Clark RF, 1995
Cervenakova L, 1996
Rogaeva EA, 2001

9

PSEN1 Met146Leu
   (g.25639A>T)

EX5
TM-II

Morelli L, 1998
Rogaeva EA, 2001

10

PSEN1 Met146Ile
   (g.25641G>T)

EX5
TM-II

Rogaeva EA, 2001

11

PSEN1 InsFI
   (g.25669_25670insTTATAT)

EX5
HL-II

Rogaeva EA, 2001
Moretti P, 2004

12

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

13

PSEN1 Phe177Leu
   (g.38826T>C)

EX6
TM-III

Rogaeva EA, 2001
Raux G, 2005

14

PSEN1 Phe177Ser
   (g.38827T>C)

EX6
TM-III

Rogaeva EA, 2001

15

PSEN1 Ser178Pro
   (g.38829T>C)

EX6
TM-III

Rogaeva EA, 2001

16

PSEN1 Gly206Ser
   (g.44635G>A)

EX7
TM-IV

Rogaeva EA, 2001
Raux G, 2005
Park HK, 2008

17

PSEN1 Gly206Ala
   (g.44636G>C)

EX7
TM-IV

Rogaeva EA, 2001
Athan ES, 2001

18

PSEN1 Gly209Glu
   (g.44645G>A)

EX7
TM-IV

Rogaeva EA, 2001

19

PSEN1 Ile213Leu
   (g.44656A>C)

EX7
TM-IV

Rogaeva EA, 2001

20

PSEN1 Gln222Arg
   (g.44684A>G)

EX7
TM-V

Rogaeva EA, 2001

21

PSEN1 Ala231Thr
   (g.44710G>A)

EX7
TM-V

Campion D, 1995
Campion D, 1999
Rogaeva EA, 2001

22

PSEN1 Met233Leu
   (g.44716A>C)

EX7
TM-V

Aldudo J, 1999
Rogaeva EA, 2001

23

PSEN1 Leu235Pro
   (g.44723T>C)

EX7
TM-V

Campion D, 1996
Campion D, 1999
Rogaeva EA, 2001
Finckh U, 2005

24

PSEN1 Val261Phe
   (g.49966G>T)

EX8
TM-VI

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

25

PSEN1 Thr274Arg
   (g.50006C>G)

EX8
HL-VI a

Rogaeva EA, 2001

26

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

27

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

28

PSEN1 Thr354Ile
   (g.63792C>T)
   Pathogenic nature unclear

EX10
HL-VI b

Rogaeva EA, 2001
Lee P, 2006

29

PSEN1 Arg358Gln
   (g.63804G>A)

EX10
HL-VI b

Rogaeva EA, 2001

30

PSEN1 Ser365Tyr
   (g.63825C>A)
   Pathogenic nature unclear

EX10
HL-VI b

Rogaeva EA, 2001

31

PSEN1 Gly394Val
   (g.69095G>T)

EX11
TM-VII

Rogaeva EA, 2001
Batelli S, 2008

32

PSEN1 Leu418Phe
   (g.71058G>T)

EX12
TM-VIII

Rogaeva EA, 2001

33

PSEN1 Ala431Glu
   (g.71096C>A)

EX12
HL-VIII

Rogaeva EA, 2001
Miravalle L, 2002
Lee P, 2006
Yescas P, 2006
Murrell J, 2006

34

PSEN1 Ala434Cys
   (g.[71104G>T;71105C>G])

EX12
TM-IX

Devi G, 2000
Rogaeva EA, 2001

35

PSEN1 Leu435Phe
   (g.71107C>T)

EX12
TM-IX

Rogaeva EA, 2001

36

PSEN1 Ile439Val
   (g.71119A>G)
   Pathogenic nature unclear

EX12
TM-IX

Rogaeva EA, 2001