Mutation

Exon /
Domain

Citations

1

MAPT Arg5His
   (g.75756G>A)

EX1
N-Term

Hayashi S, 2002

2

MAPT Arg5Leu
   (g.75756G>T)

EX1
N-Term

Poorkaj P, 2002

3

MAPT His14
   (g.75784C>T)
   Not pathogenic

EX1
N-Term

Guerreiro RJ, 2010

4

MAPT Thr17Met
   (g.75792C>T)
   Not pathogenic

EX1
N-Term

Guerreiro RJ, 2010

5

MAPT Tyr18
   (g.75796C>T)
   Not pathogenic

EX1
N-Term

Houlden H, 1999
Guerreiro RJ, 2010

6

MAPT Thr30Ala
   (g.75830A>G)
   Not pathogenic

EX1
N-Term

Guerreiro RJ, 2010

7

MAPT Thr39
   (g.75859G>A)
   Not pathogenic

EX1
N-Term

Houlden H, 1999