Mutation

Exon /
Domain

Citations

1

TARDBP Leu27
   (g.81G>A)
   Not pathogenic

EX2
N-Term

Kirby J, 2010

2

TARDBP Ala66
   (g.198T>C)
   Not pathogenic

EX2
N-Term

Gitcho MA, 2008
Kabashi E, 2008
Rutherford NJ, 2008
Daoud H, 2009
Corrado L, 2009
Del Bo R, 2009
Guerreiro RJ, 2009
Gijselinck I, 2009
Luquin N, 2009
Bäumer D, 2009
Kirby J, 2010

3

TARDBP Ala90Val
   (g.3147C>T)
   Pathogenic nature unclear

EX3
N-Term

Sreedharan J, 2008
Kabashi E, 2008
Winton MJ, 2008
Guerreiro RJ, 2009
Kirby J, 2010

4

TARDBP Ser104
   (g.3190C>T)
   Not pathogenic

EX3
N-Term

Kirby J, 2010

5

TARDBP Lys137
   (g.11120A>G)
   Not pathogenic

EX4
RRM1

Kirby J, 2010

6

TARDBP Gly287Ser
   (g.8541G>A)

EX6
Gly-Rich

Kabashi E, 2008
Corrado L, 2009
Kirby J, 2010

7

TARDBP Ala321Val
   (g.8644C>T)

EX6
Gly-Rich

Kirby J, 2010

8

TARDBP Met337Val
   (g.8691A>G)

EX6
Gly-Rich

Sreedharan J, 2008
Rutherford NJ, 2008
Corrado L, 2009
Kirby J, 2010

9

TARDBP Gly348Val
   (g.8725G>T)

EX6
Gly-Rich

Kirby J, 2010