Alzheimer Disease & Frontotemporal Dementia Mutation Database

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Mutations in CHMP2B

Mutation

Exon /
Domain

Citations

1

CHMP2B Asp148Tyr
   (g.25899G>T)

EX5
Snf7

Skibinski G, 2005

2

CHMP2B Gln165X
   (g.25950C>T)

EX5
Snf7

van der Zee J, 2007
van der Zee J, 2008

3

CHMP2B Danish CHMP2B
   (g.26189G>C)

IVS5
Snf7

Skibinski G, 2005
Lindquist SG, 2008

Mutations in FUS

Mutation

Exon /
Domain

Citations

1

FUS Met254Val
   (g.4961A>G)

   Pathogenic nature unclear

EX6
Gly-Rich

Van Langenhove T, 2010

Mutations in GRN

Mutation

Exon /
Domain

Citations

1

GRN delGRN[DR184]
   ()

Complete gene
Complete protein

Gijselinck I, 2008

2

GRN IVS1+3A>T
   (g.-3828A>T)

IVS1
Complete protein

Le Ber I, 2007

3

GRN IVS1+5G>C
   (g.-3826G>C)

IVS1
Complete protein

Cruts M, 2006
Brouwers N, 2007

4

GRN Met1
   (g.2T>C)

EX2
Signal peptide

Baker M, 2006
Gass J, 2006

5

GRN Met1
   (g.3G>A)

EX2
Signal peptide

Cruts M, 2006

6

GRN Asp22fs
   (g.63_64insC)

EX2
ParaGran

Gass J, 2006
Pietroboni AM, 2011

7

GRN Cys31fs
   (g.90_91insCTGC)

EX2
ParaGran

Baker M, 2006
Gass J, 2006
Beck J, 2008
Rohrer JD, 2008
Rohrer JD, 2009
Yu CE, 2010
Rohrer JD, 2010

8

GRN IVS2+1G>A
   (g.139G>A)

IVS2
Complete protein

Gass J, 2006
Boeve BF, 2006
Pickering-Brown SM, 2006
Kelley BJ, 2009

9

GRN Gly79fs
   (g.357_358delAG)

EX3
GranG

Gass J, 2006

10

GRN Ser82fs
   (g.366delC)

EX3
GranG

Bronner IF, 2007

11

GRN Phe86fs
   (g.378delC)

EX3
GranG

Gijselinck I, 2008

12

GRN Ala89fs;IVS3+2T>C
   (g.389T>C)

IVS3
GranG

Gijselinck I, 2008

13

GRN Arg110X
   (g.566C>T)

EX4
GranG

Van Deerlin VM, 2007
Le Ber I, 2008
Yu CE, 2010

14

GRN Val121fs
   (g.1075delG)

EX5
InterGF

Le Ber I, 2007
Le Ber I, 2008

15

GRN Gln125X
   (g.1087C>T)

EX5
GranF

Baker M, 2006
Cruts M, 2006
Bronner IF, 2007

16

GRN Pro127fs
   (g.1094_1095delCT)

EX5
GranF

Cruts M, 2006
Le Ber I, 2008

17

GRN Gln130fs
   (g.1098_1101delTAGT)

EX5
GranF

Le Ber I, 2007
Le Ber I, 2008

18

GRN Ala155fs
   (g.1277G>A)

IVS5
GranF

Gass J, 2006
Le Ber I, 2008

19

GRN Cys157fs
   (g.1283_1289delCTGCTGT)

EX6
GranF

Le Ber I, 2007
Le Ber I, 2008

20

GRN Ser203fs
   (g.1531_1532insC)

EX7
interFB

Beck J, 2008
Rohrer JD, 2010

21

GRN Val200fs
   (g.1637G>C)

IVS7
InterFB

Gass J, 2006

22

GRN IVS7-3C>G
   (g.1870C>G)

   Pathogenic nature unclear

IVS7
GranB

Benussi L, 2008

23

GRN Cys253X
   (g.1923_1924delTG)

EX8
GranB

Gass J, 2006
Le Ber I, 2008

24

GRN Lys259X
   (g.1939A>T)

EX8
GranB

Schlachetzki JC, 2009

25

GRN Ala237fs
   (g.1999_2000insCTGA)

IVS8
GranB

Cruts M, 2006

26

GRN Tyr294X
   (g.2245T>G)

EX9
GranA

Steinbach P, 2009

27

GRN Gln300X
   (g.2261C>T)

EX9
GranA

Beck J, 2008
Rohrer JD, 2009

28

GRN Ala303fs
   (g.2270_2271insG)

EX9
GranA

Gijselinck I, 2008

29

GRN Trp304fs
   (g.2272delC)

EX9
GranA

Lladó A, 2007

30

GRN Trp304fs
   (g.2273_2274insTG)

EX9
GranA

Gass J, 2006
Kelley BJ, 2009

31

GRN Val279fs
   (g.2297G>A)

IVS9
GranA

Baker M, 2006
Gass J, 2006

32

GRN Cys314X
   (g.2394C>A)

EX10
GranA

Le Ber I, 2007
Le Ber I, 2008

33

GRN His340fs
   (g.2466delG)

EX10
GranA

Benussi L, 2008

34

GRN Pro357fs
   (g.2522delC)

EX10
InterAC

López de Munain A, 2008

35

GRN Gln358X
   (g.2524C>T)

EX10
InterAC

Spina S, 2008

36

GRN Cys366fs
   (g.2547_2548delCT)

EX10
GranC

Le Ber I, 2007
Le Ber I, 2008

37

GRN Thr382fs
   (g.2596_2597insA)

EX10
GranC

Bruni AC, 2007
Frangipane F, 2008

38

GRN Gln401X
   (g.2872C>T)

EX11
GranC

Le Ber I, 2007
Le Ber I, 2008

39

GRN Val411fs
   (g.2902_2903delGT)

EX11
GranC

Bronner IF, 2007

40

GRN Ala412fs
   (g.2903_2904insGT)

EX11
GranC

Le Ber I, 2007
Le Ber I, 2008

41

GRN Gln415X
   (g.2914C>T)

EX11
GranC

Pickering-Brown SM, 2008

42

GRN Cys466fs
   (g.3066_3067insC)

EX11
GranD

Gass J, 2006
Kelley BJ, 2009

43

GRN IVS11-15_EX12+177del; Δ12
   (g.3162_3354del)

EX12
GranD; InterDE; GranE

Pickering-Brown SM, 2006
Finch N, 2009

44

GRN Cys474fs
   (g.3183_3184delTG)

EX12
GranD

Spina S, 2008

45

GRN Glu498fs
   (g.3257_3261delAGTGG)

EX12
InterDE

Beck J, 2008
Le Ber I, 2008
Rohrer JD, 2010

46

GRN Cys521Tyr
   (g.3325G>A)

EX12
GranE

Cruchaga C, 2009

Mutations in MAPT

Mutation

Exon /
Domain

Citations

1

MAPT Arg5His
   (g.75756G>A)

EX1
N-Term

Hayashi S, 2002

2

MAPT Val75Ala
   (g.12051T>C)

   Pathogenic nature unclear

EX3

Gallo M, 2009

3

MAPT Gly86Ser
   (g.87825G>A)

   Not pathogenic

EX3
N-Term

Stanford PM, 2004

4

MAPT Lys257Thr
   (g.110018A>C)

EX9
R1

Rizzini C, 2000
Pickering-Brown S, 2000

5

MAPT Ile260Val
   (g.110026A>G)

EX9
R1

Grover A, 2003

6

MAPT Leu266Val
   (g.110044C>G)

EX9
R1

Kobayashi T, 2003
Hogg M, 2003

7

MAPT Gly272Val
   (g.110063G>T)

EX9
R1

Schenk VW, 1959
Groen JJ, 1982
Heutink P, 1997
Hutton M, 1998
Spillantini MG, 1998
Rizzu P, 1999
van Swieten JC, 1999
Rosso SM, 2003
Rosso SM, 2003
Bronner IF, 2005

8

MAPT Gly273Arg
   (g.110065G>A)

EX9
R1

van der Zee J, 2006

9

MAPT IVS9-10G>T;g(-10)t
   (g.123701G>T)

IVS9

Malkani R, 2006

10

MAPT Asn279Lys
   (g.123725T>G)

EX10
IR1-2

Wszolek ZK, 1992
Kawai J, 1993
Wijker M, 1996
Reed LA, 1998
Wszolek ZK, 1998
Clark LN, 1998
Delisle MB, 1999
Yasuda M, 1999
Arima K, 2000
Wszolek ZK, 2000
McRae CA, 2001
Kowalska A, 2001
Tsuboi Y, 2002
Cheshire WP, 2002
Tsuboi Y, 2002
Caviness JN, 2003
Ferman TJ, 2003
Soliveri P, 2003
Woodruff BK, 2004

11

MAPT Leu284
   (g.123740T>C)

EX10
IR1-2

D'Souza I, 1999
Poorkaj P, 2001

12

MAPT Asn296His
   (g.123774A>C)

EX10
R2

Iseki E, 2001

13

MAPT Asn296
   (g.123776T>C)

EX10
R2

Brown J, 1996
Spillantini MG, 2000
Rohrer JD, 2009

14

MAPT Pro301Thr
   (g.123789C>A)

EX10
R2

Lladó A, 2007

15

MAPT Pro301Ser
   (g.123789C>T)

EX10
R2

Bugiani O, 1999
Sperfeld AD, 1999
Bugiani O, 2000
Yasuda M, 2000
Morris HR, 2001
Lossos A, 2003
Huey ED, 2006

16

MAPT Pro301Leu
   (g.123790C>T)

EX10
R2

Hutton M, 1998
Geschwind D, 1998
Dumanchin C, 1998
Clark LN, 1998
Spillantini MG, 1998
Rizzu P, 1999
Bird TD, 1999
Mirra SS, 1999
Nasreddine ZS, 1999
Houlden H, 1999
van Swieten JC, 1999
Kodama K, 2000
Tanaka R, 2000
Rizzu P, 2000
Poorkaj P, 2001
Kowalska A, 2001
Kobayashi T, 2002
Walker RH, 2002
Binetti G, 2003
Sobrido MJ, 2003
Rosso SM, 2003
Rosso SM, 2003
Stanford PM, 2004
Benussi L, 2005
Lladó A, 2006
Lladó A, 2008
López de Munain A, 2008

17

MAPT Ser305Asn
   (g.123802G>A)

EX10
IR2-3

Iijima M, 1999
Kobayashi K, 1999
Poorkaj P, 2001
Kobayashi K, 2002
Kobayashi K, 2003
Kobayashi K,, 2004
Boeve B, 2005

18

MAPT IVS10+11T>C
   (g.123814T>C)

IVS10

Miyamoto K, 2001
Kowalska A, 2002

19

MAPT IVS10+12C>T
   (g.123815C>T)

IVS10

Takamatsu, 1998
Hutton M, 2000
Yasuda M, 2000

20

MAPT IVS10+13A>G
   (g.123816A>G)

IVS10

Hutton M, 1998
Houlden H, 1999
Pickering-Brown SM, 2002

21

MAPT IVS10+14C>T
   (g.123817C>T)

IVS10

Lynch T, 1994
Wilhelmsen KC, 1994
Sima AA, 1996
Hutton M, 1998
Clark LN, 1998
Morris HR, 2001
Rohrer JD, 2010

22

MAPT IVS10+19C>G
   (g.123822C>G)

IVS10

Stanford PM, 2003
Rohrer JD, 2009

23

MAPT IVS10+29G>A
   (g.123832G>A)

   Not pathogenic

IVS10

D'Souza I, 1999
Roks G, 1999
Stanford PM, 2003
Levchenko A, 2004
Brouwers N, 2006
Pickering-Brown SM, 2006
Lindquist S, 2009

24

MAPT Leu315Arg
   (g.127672T>G)

EX11
IR2-3

Rosso SM, 2003
van Herpen E, 2003

25

MAPT Leu315
   (g.127673G>A)

EX11
IR2-3

Bird T, 2005

26

MAPT Ser320Phe
   (g.127687C>T)

EX11
R3

Rosso SM, 2002
Rosso SM, 2003
Rohrer JD, 2009
Rohrer JD, 2010

27

MAPT Gly335Ser
   (g.132033G>A)

EX12
R3

Spina S, 2007
Ghetti B, 2008

28

MAPT Gly335Val
   (g.132034G>T)

EX12
R3

Neumann M, 2005

29

MAPT Gln336Arg
   (g.132037A>G)

EX12
IR3-4

Pickering-Brown SM, 2004

30

MAPT Val337Met
   (g.132039G>A)

EX12
IR3-4

Poorkaj P, 1998

31

MAPT Glu342Val
   (g.132055A>T)

EX12
IR3-4

Lippa CF, 2000

32

MAPT Val363Ile
   (g.132117G>A)

EX12
R4

Munoz DG, 2007
Anfossi M, 2008

33

MAPT Lys369Ile
   (g.132136A>T)

EX12
C-Term

Neumann M, 2001

34

MAPT Gly389Arg
   (g.137420G>A)

EX13
C-Term

Pickering-Brown S, 2000
Bermingham N, 2008
Rohrer JD, 2010

35

MAPT Gly389Arg
   (g.137420G>C)

EX13
C-Term

Murrell JR, 1999
Ghetti B, 2000
Rossi G, 2008

36

MAPT Thr427Met
   (g.137535C>T)

EX13
C-Term

Giaccone G, 2004
Giaccone G, 2005

Mutations in PSEN1

Mutation

Exon /
Domain

Citations

1

PSEN1 Met233Leu
   (g.44716A>T)

EX7
TM-V

Mendez MF, 2006

2

PSEN1 InsR352
   (g.63786_63787insTCG)

   Pathogenic nature unclear

EX10
HL-VI b

Rogaeva EA, 2001
Tang-Wai D, 2002
Amtul Z, 2002
Pickering-Brown SM, 2006

3

PSEN1 Val412Ile
   (g.69148G>A)

EX11
TM-VIII

Bernardi L, 2009

Mutations in PSEN2

Mutation

Exon /
Domain

Citations

1

PSEN2 Tyr231Cys
   (g.7048A>G)

EX7
TM-V

Marcon G, 2008
Marcon G, 2009


Selection: Phenotype In (Frontotemporal Dementia)



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