Alzheimer Disease & Frontotemporal Dementia Mutation Database

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Mutations in APP

Mutation

Exon /
Domain

Citations

1

APP dupAPP[ALZ254]
   ()

Complete gene
Complete protein

Wallon D, 2012

2

APP dupAPP[EXT187]
   ()

Complete gene
Complete protein

Wallon D, 2012

3

APP dupAPP[3]
   ()

Complete gene
Complete protein

McNaughton D, 2012

4

APP dupAPP[EXT144]
   ()

Complete gene
Complete protein

Wallon D, 2012

5

APP dupAPP[F229]
   ()

Complete gene
Complete protein

Rovelet-Lecrux A, 2006

6

APP dupAPP[EXT145]
   ()

Complete gene
Complete protein

Wallon D, 2012

7

APP dupAPP[2]
   ()

Complete gene
Complete protein

McNaughton D, 2012

8

APP dupAPP[1]
   ()

Complete gene
Complete protein

McNaughton D, 2012

9

APP dupAPP[EXT773]
   ()

Complete gene
Complete protein

Rovelet-Lecrux A, 2015

10

APP dupAPP[PED3281]
   ()

Complete gene
Complete protein

Kasuga K, 2009

11

APP dupAPP[VI]
   ()

Complete gene
Complete protein

Hooli BV, 2012

12

APP dupAPP[F037]
   ()

Complete gene
Complete protein

Rovelet-Lecrux A, 2006

13

APP dupAPP[F009]
   ()

Complete gene
Complete protein

Rovelet-Lecrux A, 2006

14

APP dupAPP[F019]
   ()

Complete gene
Complete protein

Rovelet-Lecrux A, 2006

15

APP dupAPP[EXT054]
   ()

Complete gene
Complete protein

Wallon D, 2012

16

APP dupAPP[EXT279]
   ()

Complete gene
Complete protein

Wallon D, 2012

17

APP dupAPP[4]
   ()

Complete gene
Complete protein

McNaughton D, 2012

18

APP dupAPP[EXT298]
   ()

Complete gene
Complete protein

Wallon D, 2012

19

APP dupAPP[F028]
   ()

Complete gene
Complete protein

Rovelet-Lecrux A, 2006

20

APP dupAPP
   ()

Complete gene
Complete protein

Guyant-Marechal I, 2008

21

APP dupAPP[Swedish]
   ()

Complete gene
Complete protein

Thonberg H, 2011

22

APP dupAPP[5]
   ()

Complete gene
Complete protein

McNaughton D, 2012

23

APP dupAPP[Finnish]
   ()

Complete gene
Complete protein

Rovelet-Lecrux A, 2007

24

APP dupAPP[1104]
   ()

Complete gene
Complete protein

Sleegers K, 2006

25

APP dupAPP[PED2945]
   ()

Complete gene
Complete protein

Kasuga K, 2009

26

APP dupAPP[BRB]
   ()

Complete gene
Complete protein

Hooli BV, 2012

27

APP Ala201Val
   (g.116061C>T)

   Not pathogenic

EX6
N-Term

Sassi C, 2014

28

APP Val340Met
   (g.167091G>A)

   Not pathogenic

EX8
N-Term

Lee JH, 2014

29

APP Lys496Gln
   (g.211394A>C)

   Not pathogenic

EX12
N-Term

Sassi C, 2014

30

APP Lys510Asn
   (g.211438G>C)

   Not pathogenic

EX12
N-Term

Yagi R, 2014

31

APP Tyr538His
   (g.212458T>C)

   Not pathogenic

EX13
N-Term

Sassi C, 2014

32

APP Val562Ile
   (g.212530G>A)

   Not pathogenic

EX13
N-Term

Sassi C, 2014

33

APP Glu599Lys
   (g.255270G>A)

   Not pathogenic

EX14
N-Term

Sassi C, 2014

34

APP Ser614Gly
   (g.255315A>G)

   Not pathogenic

EX14
N-Term

Lee JH, 2014

35

APP Pro620Leu
   (g.255334C>T)

   Not pathogenic

EX14
N-Term

Sassi C, 2014

36

APP Glu665Asp
   (g.269483G>C)

   Not pathogenic

EX16
N-Term

Peacock ML, 1993
Peacock ML, 1994

37

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

EX16
N-Term

Mullan M, 1992

38

APP Ala673Thr
   (g.269505G>A)

   Not pathogenic

EX16
N-Term

Peacock ML, 1993

39

APP His677Arg; H6R;English APP
   (g.269518A>G)

   Not pathogenic

EX16
N-Term

Janssen JC, 2003
Kozin SA, 2015

40

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

EX16
N-Term

Wakutani Y, 2004
Wakutani Y, 2005

41

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

EX16
N-Term

Brouwers N, 2008

42

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

EX17
N-Term

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

43

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

EX17
N-Term

Tagliavini F, 1999

44

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

EX17
N-Term

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

45

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

EX17
N-Term

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

46

APP Glu693del; ΔGlu693
   (g.275271_275273delAGA)

EX17
N-Term

Tomiyama T, 2008

47

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

EX17
N-Term

Grabowski TJ, 2001
Greenberg SM, 2003

48

APP Leu705Val
   (g.275305C>G)

EX17
TM-I

Obici L, 2005

49

APP Gly708
   (g.275316C>T)

   Not pathogenic

EX17
TM-I

Balbín M, 1992
Arango D, 2001

50

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

   Pathogenic nature unclear

EX17
TM-I

Carter DA, 1992

51

APP Ala713Thr
   (g.275329G>A)

EX17
TM-I

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

52

APP Ala713Val
   (g.275330C>T)

   Not pathogenic

EX17
TM-I

Jones CT, 1992
Forsell C, 1995

53

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

EX17
TM-I

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

54

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

55

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

EX17
TM-I

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

56

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
Wallon D, 2012

57

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

EX17
TM-I

Eckman CB, 1997
De Jonghe C, 2001

58

APP Ile716Phe
   (g.275338A>T)

EX17
TM-I

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

59

APP Ile716Thr
   (g.275339T>C)

EX17
TM-I

Terreni L, 2002

60

APP Ile716Met
   (g.275340C>G)

EX17
TM-I

Blauwendraat C, 2016

61

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
Wallon D, 2012
Jiao B, 2014

62

APP Val717Leu;Indiana-2
   (g.275341G>C)

EX17
TM-I

Murrell JR, 2000
De Jonghe C, 2001
Finckh U, 2005
Godbolt AK, 2006
Ghetti B, 2008
Hooli BV, 2012
Sassi C, 2014

63

APP Val717Phe;Indiana
   (g.275341G>T)

EX17
TM-I

Murrell J, 1991
Finckh U, 2005

64

APP Val717Gly
   (g.275342T>G)

EX17
TM-I

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

65

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

EX17
TM-I

Kwok JBJ, 1998
Kwok JB, 2000
Wallon D, 2012
Dobricic V, 2012

66

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

EX17
C-Term

Theuns J, 2006

67

APP His733Pro
   (g.275390A>C)

   Not pathogenic

EX17
C-Term

Guerreiro RJ, 2010


Selection: Gene = APP



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