Alzheimer Disease & Frontotemporal Dementia Mutation Database

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Mutations in TARDBP

Mutation

Exon /
Domain

Citations

1

TARDBP Lys263Glu
   (g.8469A>G)

EX6
Gly-Rich

Kovacs GG, 2009

2

TARDBP Asn267Ser
   (g.8482A>G)

EX6
Gly-Rich

Corrado L, 2009
Borroni B, 2009

3

TARDBP Gly287Ser
   (g.8541G>A)

EX6
Gly-Rich

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

4

TARDBP Gly290Ala
   (g.8551G>C)

EX6
Gly-Rich

Van Deerlin VM, 2008

5

TARDBP Gly294Ala
   (g.8563G>C)

EX6
Gly-Rich

Sreedharan J, 2008
Pamphlett R, 2009
Luquin N, 2009

6

TARDBP Gly294Val
   (g.8563G>T)

EX6
Gly-Rich

Corrado L, 2009
Del Bo R, 2009
Williams KL, 2009

7

TARDBP Gly295Ser
   (g.8565G>A)

EX6
Gly-Rich

Benajiba L, 2009
Corrado L, 2009
Del Bo R, 2009

8

TARDBP Gly295Arg
   (g.8565G>C)

EX6
Gly-Rich

Corrado L, 2009

9

TARDBP Gly298Ser
   (g.8574G>A)

EX6
Gly-Rich

Van Deerlin VM, 2008

10

TARDBP Ala315Thr
   (g.8625G>A)

EX6
Gly-Rich

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

11

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

12

TARDBP Ala321Gly
   (g.8644C>G)

EX6
Gly-Rich

Bäumer D, 2009

13

TARDBP Ala321Val
   (g.8644C>T)

EX6
Gly-Rich

Kirby J, 2010

14

TARDBP Gln331Lys
   (g.8673C>A)

EX6
Gly-Rich

Sreedharan J, 2008

15

TARDBP Ser332Asn
   (g.8677G>A)

EX6
Gly-Rich

Corrado L, 2009

16

TARDBP Gly335Asp
   (g.8686G>A)

EX6
Gly-Rich

Corrado L, 2009

17

TARDBP Met337Val
   (g.8691A>G)

EX6
Gly-Rich

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

18

TARDBP Gln343Arg
   (g.8710A>G)

EX6
Gly-Rich

Yokoseki A, 2008

19

TARDBP Asn345Lys
   (g.8717C>A)

EX6
Gly-Rich

Rutherford NJ, 2008

20

TARDBP Gly348Cys
   (g.8724G>T)

EX6
Gly-Rich

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

21

TARDBP Gly348Val
   (g.8725G>T)

EX6
Gly-Rich

Kirby J, 2010

22

TARDBP Asn352Ser
   (g.8737A>G)

EX6
Gly-Rich

Kühnlein P, 2008
Kamada M, 2009

23

TARDBP Asn352
   (g.8738T>C)

   Not pathogenic

EX6
Gly-Rich

Guerreiro RJ, 2009

24

TARDBP Arg361Ser
   (g.8765G>T)

EX6
Gly-Rich

Kabashi E, 2008

25

TARDBP Pro363Ala
   (g.8769C>G)

EX6
Gly-Rich

Daoud H, 2009

26

TARDBP Ala366
   (g.8780C>G)

   Not pathogenic

EX6
Gly-Rich

Kamada M, 2009

27

TARDBP Tyr374X
   (g.8804T>A)

EX6
C-Term

Daoud H, 2009

28

TARDBP Ser379Pro
   (g.8817T>C)

EX6
C-Term

Corrado L, 2009

29

TARDBP Ser379Cys
   (g.8818C>G)

EX6
C-Term

Corrado L, 2009

30

TARDBP Ala382Thr
   (g.8826G>A)

EX6
C-term

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

31

TARDBP Ala382Pro
   (g.8826G>C)

EX6
C-term

Daoud H, 2009

32

TARDBP Ile383Val
   (g.8829A>G)

EX6
C-term

Rutherford NJ, 2008

33

TARDBP Asn390Asp
   (g.8850A>G)

EX6
C-Term

Kabashi E, 2008

34

TARDBP Asn390Ser
   (g.8851A>G)

EX6
C-Term

Kabashi E, 2008

35

TARDBP Ser393Leu
   (g.8860C>T)

EX6
C-Term

Corrado L, 2009


Selection: Gene = TARDBP EX6



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