Alzheimer Disease & Frontotemporal Dementia Mutation Database

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Mutations in TARDBP

Mutation

Exon /
Domain

Citations

1

TARDBP Asn12
   (g.36C>T)

   Pathogenic nature unclear

EX2
N-Term

Luquin N, 2009

2

TARDBP Leu27
   (g.81G>A)

   Not pathogenic

EX2
N-Term

Kirby J, 2010

3

TARDBP Ser29
   (g.87C>T)

   Not pathogenic

EX2
N-Term

Corrado L, 2009

4

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

5

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

6

TARDBP Ser104
   (g.3190C>T)

   Not pathogenic

EX3
N-Term

Kirby J, 2010

7

TARDBP Lys137
   (g.11120A>G)

   Not pathogenic

EX4
RRM1

Kirby J, 2010

8

TARDBP Asp169Gly
   (g.5109A>G)

EX4
RRM1

Kabashi E, 2008

9

TARDBP Tyr214
   (g.6800C>T)

   Not pathogenic

EX5
RRM2

Gijselinck I, 2009

10

TARDBP Lys263Glu
   (g.8469A>G)

EX6
Gly-Rich

Kovacs GG, 2009

11

TARDBP Asn267Ser
   (g.8482A>G)

EX6
Gly-Rich

Corrado L, 2009
Borroni B, 2009

12

TARDBP Gly287Ser
   (g.8541G>A)

EX6
Gly-Rich

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

13

TARDBP Gly290Ala
   (g.8551G>C)

EX6
Gly-Rich

Van Deerlin VM, 2008

14

TARDBP Gly294Ala
   (g.8563G>C)

EX6
Gly-Rich

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

15

TARDBP Gly294Val
   (g.8563G>T)

EX6
Gly-Rich

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

16

TARDBP Gly295Ser
   (g.8565G>A)

EX6
Gly-Rich

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

17

TARDBP Gly295Arg
   (g.8565G>C)

EX6
Gly-Rich

Corrado L, 2009

18

TARDBP Gly298Ser
   (g.8574G>A)

EX6
Gly-Rich

Van Deerlin VM, 2008

19

TARDBP Ala315Thr
   (g.8625G>A)

EX6
Gly-Rich

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

20

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

21

TARDBP Ala321Gly
   (g.8644C>G)

EX6
Gly-Rich

Bäumer D, 2009

22

TARDBP Ala321Val
   (g.8644C>T)

EX6
Gly-Rich

Kirby J, 2010

23

TARDBP Gln331Lys
   (g.8673C>A)

EX6
Gly-Rich

Sreedharan J, 2008

24

TARDBP Ser332Asn
   (g.8677G>A)

EX6
Gly-Rich

Corrado L, 2009

25

TARDBP Gly335Asp
   (g.8686G>A)

EX6
Gly-Rich

Corrado L, 2009

26

TARDBP Met337Val
   (g.8691A>G)

EX6
Gly-Rich

Sreedharan J, 2008
Rutherford NJ, 2008
Corrado L, 2009
Tamaoka A, 2010
Kirby J, 2010
Ju X, 2016

27

TARDBP Gln343Arg
   (g.8710A>G)

EX6
Gly-Rich

Yokoseki A, 2008

28

TARDBP Asn345Lys
   (g.8717C>A)

EX6
Gly-Rich

Rutherford NJ, 2008

29

TARDBP Gly348Cys
   (g.8724G>T)

EX6
Gly-Rich

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

30

TARDBP Gly348Val
   (g.8725G>T)

EX6
Gly-Rich

Kirby J, 2010

31

TARDBP Asn352Ser
   (g.8737A>G)

EX6
Gly-Rich

Kühnlein P, 2008
Kamada M, 2009

32

TARDBP Asn352
   (g.8738T>C)

   Not pathogenic

EX6
Gly-Rich

Guerreiro RJ, 2009

33

TARDBP Arg361Ser
   (g.8765G>T)

EX6
Gly-Rich

Kabashi E, 2008

34

TARDBP Pro363Ala
   (g.8769C>G)

EX6
Gly-Rich

Daoud H, 2009

35

TARDBP Ala366
   (g.8780C>G)

   Not pathogenic

EX6
Gly-Rich

Kamada M, 2009

36

TARDBP Tyr374X
   (g.8804T>A)

EX6
C-Term

Daoud H, 2009

37

TARDBP Ser379Pro
   (g.8817T>C)

EX6
C-Term

Corrado L, 2009

38

TARDBP Ser379Cys
   (g.8818C>G)

EX6
C-Term

Corrado L, 2009

39

TARDBP Ala382Thr
   (g.8826G>A)

EX6
C-term

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

40

TARDBP Ala382Pro
   (g.8826G>C)

EX6
C-term

Daoud H, 2009

41

TARDBP Ile383Val
   (g.8829A>G)

EX6
C-term

Rutherford NJ, 2008

42

TARDBP Asn390Asp
   (g.8850A>G)

EX6
C-Term

Kabashi E, 2008

43

TARDBP Asn390Ser
   (g.8851A>G)

EX6
C-Term

Kabashi E, 2008

44

TARDBP Ser393Leu
   (g.8860C>T)

EX6
C-Term

Corrado L, 2009
Ju X, 2016


Selection: Gene In (TARDBP)



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