Mutation

Exon /
Domain

Citations

1

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

2

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

3

TARDBP Asp169Gly
   (g.5109A>G)

EX4
RRM1

Kabashi E, 2008

4

TARDBP Gly287Ser
   (g.8541G>A)

EX6
Gly-Rich

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

5

TARDBP Ala315Thr
   (g.8625G>A)

EX6
Gly-Rich

Gitcho MA, 2008
Kabashi E, 2008
Gitcho MA, 2008
Cairns NJ, 2010

6

TARDBP Ala315
   (g.8627G>A)
   Not pathogenic

EX6
Gly-Rich

Kabashi E, 2008
Benajiba L, 2009
Corrado L, 2009
Guerreiro RJ, 2009
Bäumer D, 2009

7

TARDBP Gly348Cys
   (g.8724G>T)

EX6
Gly-Rich

Kabashi E, 2008
Kühnlein P, 2008
Daoud H, 2009
Del Bo R, 2009

8

TARDBP Arg361Ser
   (g.8765G>T)

EX6
Gly-Rich

Kabashi E, 2008

9

TARDBP Ala382Thr
   (g.8826G>A)

EX6
C-term

Kabashi E, 2008
Corrado L, 2009
Del Bo R, 2009
Chiò A, 2011
Orrù S, 2012

10

TARDBP Asn390Asp
   (g.8850A>G)

EX6
C-Term

Kabashi E, 2008

11

TARDBP Asn390Ser
   (g.8851A>G)

EX6
C-Term

Kabashi E, 2008