Alzheimer Disease & Frontotemporal Dementia Mutation Database

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Mutations in FUS

Mutation

Exon /
Domain

Citations

1

FUS Pro21His
   (g.2322C>A)

   Not pathogenic

EX3
QGSY-Region

Belzil VV, 2009

2

FUS Gly49
   (g.2407C>A)

   Not pathogenic

EX3
QGSY-Region

Belzil VV, 2009

3

FUS Gly51
   (g.2413C>T)

   Not pathogenic

EX3
QGSY-Region

Belzil VV, 2009

4

FUS Ser57del
   (g.2430_2432delCTT)

EX3
QGSY-Region

Belzil VV, 2009

5

FUS Asn63Ser
   (g.2448A>G)

   Not pathogenic

EX3
QGSY-Region

Belzil VV, 2009

6

FUS Gly156Glu
   (g.4126G>A)

EX5
QGSY-Region

Ticozzi N, 2009

7

FUS Gly172_Gly175del
   (g.4180_4185delGAGGTGGAGGTG)

   Not pathogenic

EX5-IVS5
Gly-Rich

Corrado L, 2010

8

FUS Gly174_Gly175del; delGG
   (g.4180_4185delGAGGTG)

   Not pathogenic

EX5-IVS5
Gly-Rich

Kwiatkowski TJ Jr, 2009
Van Langenhove T, 2010
Corrado L, 2010
Hewitt C, 2010

9

FUS Gly175_Gly176ins; insGG
   (g.4185_4186insGAGGTG)

IVS5
Gly-Rich

Kwiatkowski TJ Jr, 2009

10

FUS Gly191Ser
   (g.4772G>A)

   Pathogenic nature unclear

EX6
Gly-Rich

Corrado L, 2010

11

FUS Gln210His
   (g.4831G>C)

   Not pathogenic

EX6
Gly-Rich

Groen EJ, 2010

12

FUS Arg216Cys
   (g.4857C>T)

   Pathogenic nature unclear

EX6
Gly-Rich

Corrado L, 2010

13

FUS Gly225Val
   (g.4875G>T)

EX6
Gly-Rich

Corrado L, 2010

14

FUS Gly226Ser
   (g.4877G>A)

   Not pathogenic

EX6
Gly-Rich

Corrado L, 2010

15

FUS Gly228_Gly230delGGG
   (g.4879_4887del)

   Not pathogenic

EX6
Gly-Rich

Belzil VV, 2009
Hewitt C, 2010

16

FUS Gly229_Gly230delGG
   (g.4882_4887delCGGCGG)

   Not pathogenic

EX6
Gly-Rich

Corrado L, 2010

17

FUS Gly228_Gly230delGGG
   (g.4882_4890del)

   Not pathogenic

EX6
Gly-Rich

Corrado L, 2010

18

FUS Gly227_Gly230delGGGG
   (g.4882_4893del)

   Not pathogenic

EX6
Gly-Rich

Corrado L, 2010

19

FUS Gly229_Gly230delGG
   (g.4885_4890delCGGTGG)

   Not pathogenic

EX6
Gly-Rich

Corrado L, 2010

20

FUS Gly230delG
   (g.4885_4887del)

   Not pathogenic

EX6
Gly-Rich

Corrado L, 2010

21

FUS Gly230_Tys231insG
   (g.4887_4888insCGG)

   Not pathogenic

EX6
Gly-Rich

Belzil VV, 2009
Corrado L, 2010

22

FUS Gly230_Tys231insGG
   (g.4887_4888insCGGCGG)

   Not pathogenic

EX6
Gly-Rich

Corrado L, 2010

23

FUS Gly229_Gly230delGG
   (g.4888_4893delTGGTGG)

   Not pathogenic

EX6
Gly-Rich

Corrado L, 2010

24

FUS Gly230Cys
   (g.4889G>T)

EX6
Gly-Rich

Corrado L, 2010

25

FUS Arg234Cys
   (g.4901C>T)

EX6
Gly-Rich

Corrado L, 2010

26

FUS Arg234Leu
   (g.4902G>T)

EX6
Gly-Rich

Ticozzi N, 2009

27

FUS Arg244Cys
   (g.4931C>T)

EX6
Gly-Rich

Kwiatkowski TJ Jr, 2009

28

FUS Met254Val
   (g.4961A>G)

   Pathogenic nature unclear

EX6
Gly-Rich

Van Langenhove T, 2010

29

FUS Ser402_Pro411delinsGGGG
   (g.10096_10124delins)

EX12
Gly-Rich

DeJesus-Hernandez M, 2010

30

FUS Ser462Phe
   (g.10620C>T)

   Pathogenic nature unclear

EX13
C-term

Groen EJ, 2010

31

FUS Gly466ValfsX15
   (g.10474A>G)

IVS13
RGG-domain

DeJesus-Hernandez M, 2010

32

FUS Gly507Asp
   (g.10875G>A)

EX14
RGG-domain

Corrado L, 2010
Hewitt C, 2010

33

FUS Arg514Gly
   (g.10895A>G)

EX14
C-Term

Vance C, 2009

34

FUS Arg514Ser,Gly515Cys
   (g.[11185G>T;11186G>T])

EX15
C-Term

Kwiatkowski TJ Jr, 2009

35

FUS His517Gln
   (g.11194C>G)

EX15
C-Term

Kwiatkowski TJ Jr, 2009

36

FUS Arg518Lys
   (g.11196G>A)

EX15
C-Term

Kwiatkowski TJ Jr, 2009

37

FUS Arg521Gly
   (g.11204C>G)

EX15
C-Term

Kwiatkowski TJ Jr, 2009
Ticozzi N, 2009

38

FUS Arg521Cys
   (g.11204C>T)

EX15
C-Term

Kwiatkowski TJ Jr, 2009
Vance C, 2009
Belzil VV, 2009
Ticozzi N, 2009
Groen EJ, 2010
Corrado L, 2010
Tateishi T, 2010
Blair IP, 2010
Drepper C, 2011

39

FUS Arg521His
   (g.11205G>A)

EX15
C-Term

Kwiatkowski TJ Jr, 2009
Vance C, 2009
Belzil VV, 2009
Groen EJ, 2010
Van Langenhove T, 2010
Van Damme P, 2010

40

FUS Arg522Gly
   (g.11207A>G)

EX15
C-Term

Kwiatkowski TJ Jr, 2009

41

FUS Arg522
   (g.11209G>A)

   Not pathogenic

EX15
C-Term

Ticozzi N, 2009
Drepper C, 2011

42

FUS Arg524Trp
   (g.11213A>T)

EX15
C-Term

Hewitt C, 2010

43

FUS Arg524Thr
   (g.11214G>C)

EX15
C-Term

Kwiatkowski TJ Jr, 2009

44

FUS Arg524Ser
   (g.11215G>C)

EX15
C-Term

Kwiatkowski TJ Jr, 2009

45

FUS Pro525Leu
   (g.11217C>T)

EX15
C-Term

Kwiatkowski TJ Jr, 2009


Selection: Gene In (FUS)



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