|
Mutations in
APP
|  |
|
|
|
|
| |
|
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
Note! When using AD&FTDMDB, please consult the How To Cite page for information on how to cite AD&FTDMDB in your publication.
|
