back to Main Presenilin Mutation Directory

View Presenilin-1 Diagram
View Presenilin-2 Diagram
View Presenilin-1 Mutations Table

Mutation	References
R62H	Cruts et al. 1998
R71W	Guerreiro et al., 2008
T122P	Finckh et al. 2000
Ser130Leu	Tedde et al., 2003
N141I	Levy-Lahad et al., 1995 Rogaev et al., 1995
V148I	Lao et al., 1998
M174V	Guerreiro et al., 2008
S175C	Piscopo et al., 2010
Q228L	Zekanowski et al., 2003
M239I	Finckh et al. 2000
M239V	Rogaev et al. 1995 Marcon et al., 2004
V393M	Lindquist et al., 2008