Alzheimer Disease & Frontotemporal Dementia Mutation Database

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Mutations in PSEN1

Mutation

Exon /
Domain

Citations

1

PSEN1 Glu184Asp
   (g.44571A>C)

EX7
HL-III

Yasuda M, 1997
Janssen JC, 2002
Janssen JC, 2003

2

PSEN1 Val191Ala
   (g.44591T>C)

   Not pathogenic

EX7
HL-III

Guerreiro RJ, 2010

3

PSEN1 Gly206Ser
   (g.44635G>A)

EX7
TM-IV

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

4

PSEN1 Gly206Asp
   (g.44636G>A)

EX7
TM-IV

Raux G, 2005

5

PSEN1 Gly206Ala
   (g.44636G>C)

EX7
TM-IV

Rogaeva EA, 2001
Athan ES, 2001

6

PSEN1 Gly206Val
   (g.44636G>T)

EX7
TM-IV

Goldman JS, 2002

7

PSEN1 Gly209Arg
   (g.44644G>A)

EX7
TM-IV

Sugiyama N, 1999

8

PSEN1 Gly209Glu
   (g.44645G>A)

EX7
TM-IV

Rogaeva EA, 2001

9

PSEN1 Gly209Val
   (g.44645G>T)

EX7
TM-IV

Poorkaj P, 1998

10

PSEN1 Ser212Tyr
   (g.44654C>A)

EX7
TM-IV

Ringman JM, 2011

11

PSEN1 Ile213Leu
   (g.44656A>C)

EX7
TM-IV

Rogaeva EA, 2001

12

PSEN1 Ile213Phe
   (g.44656A>T)

EX7
TM-IV

Zekanowski C, 2003

13

PSEN1 Ile213Thr
   (g.44657T>C)

EX7
TM-IV

Kamino K, 1996

14

PSEN1 His214Asp
   (g.44659C>G)

EX7
HL-IV

Clarimón J, 2008
Guerreiro RJ, 2010

15

PSEN1 His214Tyr
   (g.44659C>T)

EX7
HL-IV

Raux G, 2005

16

PSEN1 Gly217Arg
   (g.44668G>C)

EX7
HL-IV

Norton JB, 2009

17

PSEN1 Gly217Asp
   (g.44669G>A)

EX7
HL-IV

Miravalle L, 2002
Takao M, 2002

18

PSEN1 Leu219Phe
   (g.44674C>T)

EX7
HL-IV

Terreni L, 2000

19

PSEN1 Leu219Pro
   (g.44675T>C)

EX7
HL-IV

Smith MJ, 1999

20

PSEN1 Gln222Arg
   (g.44684A>G)

EX7
TM-V

Rogaeva EA, 2001

21

PSEN1 Gln222His
   (g.44685G>C)

EX7
TM-V

Miklossy J, 2003

22

PSEN1 Gln223Arg
   (g.44687A>G)

EX7
TM-V

Uttner I, 2010

23

PSEN1 Leu226Phe
   (g.44695C>T)

EX7
TM-V

Golan M, 2005
Zekanowski C, 2006
Gómez-Tortosa E, 2010

24

PSEN1 Leu226Arg
   (g.44696T>G)

EX7
TM-V

Coleman P, 2004

25

PSEN1 Ile229Phe
   (g.44704A>T)

EX7
TM-V

Janssen JC, 2002
Janssen JC, 2003

26

PSEN1 Ala231Thr
   (g.44710G>A)

EX7
TM-V

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

27

PSEN1 Ala231Val
   (g.44711C>T)

EX7
TM-V

Cruts M, 1998

28

PSEN1 Met233Leu
   (g.44716A>C)

EX7
TM-V

Aldudo J, 1999
Rogaeva EA, 2001

29

PSEN1 Met233Val
   (g.44716A>G)

EX7
TM-V

Houlden H, 2001

30

PSEN1 Met233Leu
   (g.44716A>T)

EX7
TM-V

Mendez MF, 2006

31

PSEN1 Met233Thr
   (g.44717T>C)

EX7
TM-V

Kwok JB, 1997
Campion D, 1999
Raux G, 2005
Park HK, 2008
Guerreiro RJ, 2010

32

PSEN1 Met233Ile
   (g.44718G>C)

EX7
TM-V

Portet F, 2003

33

PSEN1 Leu235Val
   (g.44722C>G)

EX7
TM-V

Janssen JC, 2002
Janssen JC, 2003

34

PSEN1 Leu235Pro
   (g.44723T>C)

EX7
TM-V

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

35

PSEN1 Phe237Ile
   (g.44728T>A)

EX7
TM-V

Sodeyama N, 2001

36

PSEN1 Phe237Leu
   (g.44728T>C)

EX7
TM-V

Janssen JC, 2002
Janssen JC, 2003

37

PSEN1 Ile238Met
   (g.44733C>G)

   Pathogenic nature unclear

EX7
TM-V

Ringman JM, 2011

38

PSEN1 Lys239Asn
   (g.44736G>C)

EX7
HL-V

Lladó A, 2010

39

PSEN1 Thr245Pro
   (g.44752A>C)

EX7
TM-VI

Edwards-Lee T, 2006

40

PSEN1 Ala246Glu
   (g.44756C>A)

EX7
TM-VI

Sherrington R, 1995
Kowalska A, 2003
Kowalska A, 2004
Kowalska A, 2004
Gliebus G, 2009

41

PSEN1 Leu248Arg
   (g.44762T>G)

EX7
TM-VI

Clarimón J, 2008
Guerreiro RJ, 2010

42

PSEN1 Leu250Val
   (g.44767T>G)

EX7
TM-VI

Furuya H, 2003
Mehrabian S, 2005

43

PSEN1 Leu250Ser
   (g.44768T>C)

EX7
TM-VI

Hutton M, 1996
Harvey RJ, 1998

44

PSEN1 Tyr256Ser
   (g.44786A>C)

EX7
TM-VI

Miklossy J, 2003


Selection: Gene = PSEN1 EX7



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