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Home: Research: Compendia: Mutations: Presenilin Mutations Directory
Presenilin-2 Mutations Table

back to main Presenilin Mutations Directory

Updated 28 February 2010

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

View Presenilin-2 Diagram
View Presenilin-2 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

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Other Mutations Resources
AD & FTD Mutation Database
This database aims to collect all known mutations and non-pathogenic coding variations in the genes related to Alzheimer disease (AD) and frontotemporal dementia. Curated by Marc Cruts and Roos Rademakers.

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ALS Online Genetics Database


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