Mutation

Exon /
Domain

Citations

1

PSEN1 Ala79Val
   (g.22921C>T)

EX4
N-Term

Cruts M, 1998
Finckh U, 2000
Rogaeva EA, 2001
Miravalle L, 2002
Kauwe JS, 2007

2

PSEN1 Tyr115Cys
   (g.25547A>G)

EX5
HL-I

Cruts M, 1998
Rogaeva EA, 2001
Janssen JC, 2002
Janssen JC, 2003
Doran M, 2006

3

PSEN1 Ala231Val
   (g.44711C>T)

EX7
TM-V

Cruts M, 1998

4

PSEN1 Glu318Gly
   (g.58389A>G)
   Not pathogenic

EX9
HL-VI b

Sandbrink R, 1996
Cruts M, 1998
Aldudo J, 1998
Mattila KM, 1998
Dermaut B, 1999
Helisalmi S, 2000
Goldman JS, 2005
Raux G, 2005
Batelli S, 2008
Bernardi L, 2008
Gallo M, 2008
Lindquist S, 2009

Mutation

Exon /
Domain

Citations

1

PSEN2 Arg62His
   (g.1839G>A)
   Pathogenic nature unclear

EX4
N-Term

Cruts M, 1998
Sleegers K, 2004
Ertekin-Taner N, 2008
Gallo M, 2009
Guerreiro RJ, 2010