Alzheimer Disease & Frontotemporal Dementia Mutation Database

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Mutations in APP

Mutation

Exon /
Domain

Citations

1

APP dupAPP[F229]
   ()

Complete gene
Complete protein

Rovelet-Lecrux A, 2006

2

APP dupAPP[F019]
   ()

Complete gene
Complete protein

Rovelet-Lecrux A, 2006

3

APP dupAPP[F009]
   ()

Complete gene
Complete protein

Rovelet-Lecrux A, 2006

4

APP dupAPP[F037]
   ()

Complete gene
Complete protein

Rovelet-Lecrux A, 2006

5

APP dupAPP[F028]
   ()

Complete gene
Complete protein

Rovelet-Lecrux A, 2006

6

APP dupAPP
   ()

Complete gene
Complete protein

Guyant-Marechal I, 2008

7

APP dupAPP[Swedish]
   ()

Complete gene
Complete protein

Thonberg H, 2011

8

APP dupAPP[Finnish]
   ()

Complete gene
Complete protein

Rovelet-Lecrux A, 2007

9

APP dupAPP[1104]
   ()

Complete gene
Complete protein

Sleegers K, 2006

10

APP Glu665Asp
   (g.269483G>C)

   Not pathogenic

EX16
N-Term

Peacock ML, 1993
Peacock ML, 1994

11

APP APPKM670/671NL; Swedish APP
   (g.[269498G>T;269499A>C])

EX16
N-Term

Mullan M, 1992

12

APP Ala673Thr
   (g.269505G>A)

   Not pathogenic

EX16
N-Term

Peacock ML, 1993

13

APP His677Arg
   (g.269518A>G)

   Not pathogenic

EX16
N-Term

Janssen JC, 2003

14

APP Asp678Asn, Tottori APP
   (g.269520G>A)

EX16
N-Term

Wakutani Y, 2004
Wakutani Y, 2005

15

APP Glu682Lys; Leuven APP
   (g.278679G>A)

EX16
N-Term

Brouwers N, 2008

16

APP Ala692Gly; Flemish APP
   (g.275267C>G)

EX17
N-Term

Hendriks L, 1992
Roks G, 2000
Kumar-Singh S, 2002

17

APP Glu693Lys; Italian APP
   (g.275269G>A)

EX17
N-Term

Tagliavini F, 1999

18

APP Glu693Gln; Dutch APP
   (g.275269G>C)

EX17
N-Term

Levy E, 1990
Van Broeckhoven C, 1990
Fernandez-Madrid I, 1991

19

APP Glu693Gly; Arctic APP
   (g.275270A>G)

EX17
N-Term

Kamino K, 1992
Nilsberth C, 2000
Nilsberth C, 2001

20

APP Glu693del; ΔGlu693
   (g.275271_275273delAGA)

EX17
N-Term

Tomiyama T, 2008

21

APP Asp694Asn; Iowa APP
   (g.275272G>A)

EX17
N-Term

Grabowski TJ, 2001
Greenberg SM, 2003

22

APP Leu705Val
   (g.275305C>G)

EX17
TM-I

Obici L, 2005

23

APP Gly708
   (g.275316C>T)

   Not pathogenic

EX17
TM-I

Balbín M, 1992
Arango D, 2001

24

APP Ala713Thr
   (g.[275329G>A;275337G>A])

   Pathogenic nature unclear

EX17
TM-I

Carter DA, 1992

25

APP Ala713Thr
   (g.275329G>A)

EX17
TM-I

Giaccone G, 2002
Rossi G, 2004
Armstrong J, 2004
Bernardi L, 2009

26

APP Ala713Val
   (g.275330C>T)

   Not pathogenic

EX17
TM-I

Jones CT, 1992
Forsell C, 1995

27

APP Thr714Ala, Iranian APP
   (g.275332A>G)

EX17
TM-I

Pasalar P, 2002
Zekanowski C, 2003
Lindquist SG, 2008
Lindquist S, 2009

28

APP Thr714Ile, Austrian APP
   (g.275333C>T)

EX17
TM-I

De Jonghe C, 2000
Kumar-Singh S, 2000
De Jonghe C, 2001
Edwards-Lee T, 2005
Raux G, 2005

29

APP Val715Met; French APP
   (g.275335G>A)

EX17
TM-I

Ancolio K, 1999
Campion D, 1999
De Jonghe C, 2001
Park HK, 2008

30

APP Val715Ala; German APP
   (g.275336T>C)

EX17
TM-I

De Jonghe C, 2001
Cruts M, 2002
Janssen JC, 2002
Janssen JC, 2003
Cruts M, 2003
Zekanowski C, 2003

31

APP Ile716Val; Florida APP
   (g.275338A>G)

EX17
TM-I

Eckman CB, 1997
De Jonghe C, 2001

32

APP Ile716Phe
   (g.275338A>T)

EX17
TM-I

Clarimón J, 2008
Guardia-Laguarta C, 2010
Guerreiro RJ, 2010

33

APP Ile716Thr
   (g.275339T>C)

EX17
TM-I

Terreni L, 2002

34

APP Val717Ile; London APP
   (g.275341G>A)

EX17
TM-I

Goate A, 1991
Naruse S, 1991
Hardy J, 1991
Yoshioka K, 1991
Fidani L, 1992
Sorbi S, 1993
Yoshizawa T, 1993
Sorbi S, 1995
Brooks WS, 1995
Matsumura Y, 1996
Campion D, 1996
Campion D, 1999
Finckh U, 2000
De Jonghe C, 2001
Janssen JC, 2002
Janssen JC, 2003
Tedde A, 2003
Finckh U, 2005
Raux G, 2005
Brouwers N, 2006

35

APP Val717Leu
   (g.275341G>C)

EX17
TM-I

Murrell JR, 2000
De Jonghe C, 2001
Finckh U, 2005
Godbolt AK, 2006
Ghetti B, 2008

36

APP Val717Phe
   (g.275341G>T)

EX17
TM-I

Murrell J, 1991
Finckh U, 2005

37

APP Val717Gly
   (g.275342T>G)

EX17
TM-I

Chartier-Harlin MC, 1991
Knight W, 2008
Knight WD, 2009

38

APP Leu723Pro; Australian APP
   (g.275360T>C)

EX17
TM-I

Kwok JBJ, 1998
Kwok JB, 2000

39

APP Lys724Asn; Belgian APP
   (g.275364G>C)

EX17
C-Term

Theuns J, 2006

40

APP His733Pro
   (g.275390A>C)

   Not pathogenic

EX17
C-Term

Guerreiro RJ, 2010


Selection: Gene = APP



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