back to Main Presenilin Mutation Directory

View Presenilin-1 Diagram (2006 version by K. Dillen and W. Annaert)
View Presenilin-1 Diagram (2002 version by R. Crook)
View Presenilin-2 Diagram 2
View Presenilin-2 Mutations Table

Mutation	References
A79V	Cruts 1998
	Finckh 2000
V82L	Cruts 1998
Leu85Pro	Ataka et al., 2004
Cys92Ser	Tedde et al., 2003
V94M	Jacquier, et al., 2001
V96F	Kamino et al. 1996
F105L	Finckh et al. 2000
Y115C	Cruts et al. 1998
Y115H	Campion et al. 1995
T116N	Guerreiro et al., 2008
T116N	Romero et al. 1999
P117A	Kauwe et al., 2008
P117L	Wisniewski et al. 1998
P117R	Zekanowski et al., 2003
E120D	Reznik-Wolf et al. 1996
E120D2	Poorkaj et al. 1998
E120G	Lladó et al., 2010
E120K	Hutton et al. 1996
E123K	Yasuda et al. 1999
N135D	Crook et al. 1997
M139I	Boteva et al. 1996
M139T	Campion et al. 1995
M139V	Boteva et al. 1996
	Clark et al. 1995
	Sandbrink et al. 1996
	Finckh et al. 2000
I143F	Rossor et al. 1996
	Palmer et al. 1999
I143M	Heckmann et al. 2003
I143T	Cruts et al. 1995
M146I	Cervenakova et al. 1996
	Jorgansen et al. 1996
M146L	Sherrington et al. 1995
	Sorbi et al. 1996
M146V	Clark et al. 1995
	Cervenakova et al. 1996
T147I	Campion et al. 1999
H163R	Sherrington et al. 1995
	Tanahashi et al. 1995
	Boteva et al. 1996
	Campion et al. 1995
	Kamino et al. 1996
	Podulso et al. 1996
	Tanahashi et al. 1996
	Reznik-Wolf et al. 1996
	Cervenakove et al. 1996
	Poorkaj et al. 1998
	Kamimura et al. 1998
H163Y	Clark et al.
W165C	Campion et al. 1999
S169L	Taddei et al. 1998
S169P	Ezquerra et al. 1999
Ser169del	Guo et al., 2009
S170F	Snider et al., 2005
L171P	Levy-Lahad et al. 1995, Rogaev et al. 1995
L173W	Campion et al. 1999
Leu174Met	Tedde et al., 2003
G183V	Dermaut et al. 2004
E184D	Yasuda et al. 1997
G209V	Poorkaj et al. 1998
	Sugiyama et al. 1999
I213F	Zekanowski et al., 2003
I213T	Kamino et al. 1996
H214D	Guerreiro et al., 2008
L219F	Citation: Terreni, et al.
L219P	Smith et al. 1999
Q222H	Miklossy et al. 2003
L226R	Coleman et al. 2004
A231T	Campion et al. 1995
A231V	Cruts et al.
M233L	Aldudo et al. 1997
M233T	Guerreiro et al., 2008
M233T	Kwok et al. 1999
L235P	Campion et al. 1996
F237I	Sodeyama et al., 2001.
A246E	Sherrington et al. 1995
L248R	Guerreiro et al., 2008
L250S	Hutton et al. 1995
Y256S	Miklossy et al. 2003
A260V	Guerreiro et al., 2008
A260V	Rogaev et al. 1995
	Poorkaj et al. 1998
V261F (Spastic paraparesis)	Farlow, et al.
L262F	Forsell et al. 1997
C263R	Wasco et al. 1995
P264L	Campion et al. 1995
	Kwok et al. 1997
	Poorkaj et al. 1998
	Wasco et al. 1995
P267S	Clark et al. 1995
	Hutton et al. 1996
R269G	Perez-Tur et al. 1996
R269H	Gomez-Islaet al. 1997
V272A	Guerreiro et al., 2008
E273A	Kamimura et al. 1998
R278T	Kwok et al. 1997
E280A	Clark et al. 1995
	Tanahashi 1996
	Kwok et al. 1997
E280G	Clark et al. 1995
	Hutton et al. 1996
L282R	Aldudo et al. 1998
	Aldudo et al. 1999
A285V	Rogaev et al. 1995
L286V	Sherrington et al. 1995
S290C	Hutton et al. 1996
	Perez-Tur 1995
	Kwok 1997
S290C2	Sato et al. 1998
S290C3	Crook et al. 1998
	Prihar et al. 1999
S365A	Guerreiro et al., 2008
G378E	Besançon et al. 1997
G384A	Cruts et al. 1995
	Tanahashi et al. 1996
	Kamimura et al. 1998
S390I	Campion et al. 1999
L392V	Rogaev et al. 1995, Campion et al. 1995
N405S	Yasuda et al. 2000
A409T	Aldudo et al. 1999
C410Y	Sherrington 1995
	Campion 1995
	Cervenakova 1996
	Poorkaj 1998
L420R	Shrimpton et al., 2007
L424R	Kowalska et al. 1999
A426P	Poorkaj et al. 1998
P436Q	Taddei et al. 1998
P436S	Palmer et al. 1999

Mutations in APP, PS1 and PS2 are also listed in the Alzheimer Disease Mutation Database (ADMD), maintained by Marc Cruts