Mutation

Exon /
Domain

Citations

1

PSEN2 Tyr231Cys
   (g.7048A>G)

EX7
TM-V

Marcon G, 2008
Marcon G, 2009

2

PSEN2 Gln228Leu
   (g.7039A>T)

EX7
TM-V

Zekanowski C, 2003

3

PSEN2 Met239Val
   (g.7071A>G)

EX7
TM-V

Rogaev EI, 1995
Marcon G, 2004

4

PSEN2 Met239Ile
   (g.7073G>A)

EX7
TM-V

Finckh U, 2000
Finckh U, 2000

5

PSEN2 Ala252Thr
   (g.7110G>A)
   Not pathogenic

EX7
TM-VI

Guerreiro RJ, 2010