Alzheimer Disease & Frontotemporal Dementia Mutation Database

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Mutations in MAPT

Mutation

Exon /
Domain

Citations

1

MAPT Arg5His
   (g.75756G>A)

EX1
N-Term

Hayashi S, 2002

2

MAPT Arg5Leu
   (g.75756G>T)

EX1
N-Term

Poorkaj P, 2002

3

MAPT His14
   (g.75784C>T)

   Not pathogenic

EX1
N-Term

Guerreiro RJ, 2010

4

MAPT Thr17Met
   (g.75792C>T)

   Not pathogenic

EX1
N-Term

Guerreiro RJ, 2010

5

MAPT Tyr18
   (g.75796C>T)

   Not pathogenic

EX1
N-Term

Houlden H, 1999
Guerreiro RJ, 2010

6

MAPT Thr30Ala
   (g.75830A>G)

   Not pathogenic

EX1
N-Term

Guerreiro RJ, 2010

7

MAPT Thr39
   (g.75859G>A)

   Not pathogenic

EX1
N-Term

Houlden H, 1999

8

MAPT Val75Ala
   (g.12051T>C)

   Pathogenic nature unclear

EX3

Gallo M, 2009

9

MAPT Gly86Ser
   (g.87825G>A)

   Not pathogenic

EX3
N-Term

Stanford PM, 2004

10

MAPT Gly200Glu
   (g.96809G>A)

   Not pathogenic

EX4a

Sassi C, 2014

11

MAPT Pro202Leu
   (g.96815C>T)

   Not pathogenic

EX4a

Ingelson M, 2001
Stanford PM, 2004

12

MAPT Gly213Arg
   (g.96847G>A)

   Not pathogenic

EX4a

Jin SC, 2012
Sassi C, 2014

13

MAPT Val224Gly
   (g.96881T>G)

   Not pathogenic

EX4a

Jin SC, 2012
Sassi C, 2014

14

MAPT Gln230Arg
   (g.96899A>G)

   Not pathogenic

EX4a

Rademakers R, 2004
Jin SC, 2012

15

MAPT Asp285Asn
   (g.97063G>A)

   Not pathogenic

EX4a

Poorkaj P, 1998
Higgins JJ, 1999
Higgins JJ, 2000
Ingelson M, 2001
Stanford PM, 2004

16

MAPT Asp285
   (g.97065C>T)

   Not pathogenic

EX4a

Poorkaj P, 1998
Rademakers R, 2004
Stanford PM, 2004

17

MAPT Val289Ala
   (g.97076T>C)

   Not pathogenic

EX4a

Poorkaj P, 1998
Higgins JJ, 1999
Higgins JJ, 2000
Ingelson M, 2001
Stanford PM, 2004

18

MAPT Ala297Val
   (g.97100C>T)

   Pathogenic nature unclear

EX4a

Jin SC, 2012

19

MAPT Ser318Leu
   (g.97163C>T)

   Not pathogenic

EX4a

Jin SC, 2012

20

MAPT Arg370Trp
   (g.97318C>T)

   Not pathogenic

EX4a

Ingelson M, 2001
Sobrido MJ, 2003
Stanford PM, 2004

21

MAPT EX6 His47Tyr
   (g.103422T>C)

   Not pathogenic

EX6

Poorkaj P, 1998
Crawford F, 1999
Stanford PM, 2004

22

MAPT EX6 Ser53Pro
   (g.103440T>C)

   Not pathogenic

EX6

Poorkaj P, 1998
Crawford F, 1999
Ingelson M, 2001
Stanford PM, 2004

23

MAPT Gly461fs;Gly144fs
   (g.104864A>T)

   Pathogenic nature unclear

IVS6

Sassi C, 2014

24

MAPT Ala152Thr
   (g.104890G>A)

   Pathogenic nature unclear

EX7

Jin SC, 2012

25

MAPT Pro176
   (g.104964G>A)

   Not pathogenic

EX7

Rizzu P, 1999
Poorkaj P, 2001
Kowalska A, 2001
Levchenko A, 2004
Stanford PM, 2004

26

MAPT Ala178Thr
   (g.104968G>A)

   Not pathogenic

EX7

Houlden H, 1999

27

MAPT EX8 Thr2
   (g.107334T>C)

   Not pathogenic

EX8

Higgins JJ, 1999
Higgins JJ, 2000
Ingelson M, 2001
Kowalska A, 2001

28

MAPT Pro200
   (g.109848C>T)

   Not pathogenic

EX9

Guerreiro RJ, 2010

29

MAPT Ala227
   (g.109929A>G)

   Not pathogenic

EX9

Rizzu P, 1999
Baker M, 1999
Houlden H, 1999
Roks G, 1999
Poorkaj P, 2001
Ingelson M, 2001
Levchenko A, 2004
Stanford PM, 2004
Guerreiro RJ, 2010

30

MAPT Ala239Thr
   (g.109963G>A)

   Not pathogenic

EX9

Pickering-Brown SM, 2002
Pickering-Brown SM, 2006

31

MAPT Asn255
   (g.110013T>C)

   Not pathogenic

EX9

Poorkaj P, 1998
Rizzu P, 1999
Baker M, 1999
Houlden H, 1999
Roks G, 1999
Poorkaj P, 2001
Ingelson M, 2001
Levchenko A, 2004
Stanford PM, 2004
Guerreiro RJ, 2010

32

MAPT Lys257Thr
   (g.110018A>C)

EX9
R1

Rizzini C, 2000
Pickering-Brown S, 2000

33

MAPT Ile260Val
   (g.110026A>G)

EX9
R1

Grover A, 2003

34

MAPT Leu266Val
   (g.110044C>G)

EX9
R1

Kobayashi T, 2003
Hogg M, 2003

35

MAPT Leu266
   (g.110046G>A)

   Not pathogenic

EX9
R1

Guerreiro RJ, 2010

36

MAPT Pro270
   (g.110058G>A)

   Not pathogenic

EX9
R1

Rizzu P, 1999
Houlden H, 1999
Poorkaj P, 2001
Levchenko A, 2004
Stanford PM, 2004
Guerreiro RJ, 2010

37

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

38

MAPT Gly273Arg
   (g.110065G>A)

EX9
R1

van der Zee J, 2006

39

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

IVS9

Malkani R, 2006

40

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

41

MAPT ΔK280;ΔK281
   (g.123729_123731delAAG)

   Pathogenic nature unclear

EX10
IR1-2

Rizzu P, 1999
Rosso SM, 2003
Momeni P, 2009
Rohrer JD, 2009

42

MAPT Leu284
   (g.123740T>C)

EX10
IR1-2

D'Souza I, 1999
Poorkaj P, 2001

43

MAPT Val287Ile
   (g.123747G>A)

   Pathogenic nature unclear

EX10
IR1-2

Jin SC, 2012

44

MAPT Asn296His
   (g.123774A>C)

EX10
R2

Iseki E, 2001

45

MAPT ΔN296
   (g.123775_123777delATA)

EX10
R2

Pastor P, 2001
Ferrer I, 2003
Oliva R, 2004
Rossi G, 2004

46

MAPT Asn296
   (g.123776T>C)

EX10
R2

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

47

MAPT Pro301Thr
   (g.123789C>A)

EX10
R2

Lladó A, 2007
Guerreiro RJ, 2010

48

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

49

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

50

MAPT Pro301
   (g.123791G>A)

   Not pathogenic

EX10
R2

Miyamoto K, 2001

51

MAPT Gly303Val
   (g.123796G>T)

EX10
R2

Rojo A, 1999
Ros R, 2005

52

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

53

MAPT Ser305Ile
   (g.123802G>T)

EX10
IR2-3

Kovacs GG, 2008

54

MAPT Ser305
   (g.123803T>C)

EX10
IR2-3

Spillantini MG, 2000
Stanford PM, 2000
Wszolek ZK, 2001
Skoglund L, 2008

55

MAPT IVS10+3G>A
   (g.123806G>A)

IVS10

Spillantini MG, 1997
Murrell JR, 1997
Spillantini MG, 1998
Tolnay M, 2000
Neumann M, 2005
Ghetti B, 2008
Spina S, 2008

56

MAPT IVS10+11T>C
   (g.123814T>C)

IVS10

Miyamoto K, 2001
Kowalska A, 2002

57

MAPT IVS10+12C>T
   (g.123815C>T)

IVS10

Takamatsu, 1998
Hutton M, 2000
Yasuda M, 2000

58

MAPT IVS10+13A>G
   (g.123816A>G)

IVS10

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

59

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

60

MAPT IVS10+16C>T
   (g.123819C>T)

IVS10

Lanska DJ, 1994
Petersen RB, 1995
Brown J, 1996
Yamaoka LH, 1996
Dark F, 1997
Baker M, 1997
Hutton M, 1998
Goedert M, 1999
Houlden H, 1999
Hulette CM, 1999
Poorkaj P, 2001
Morris HR, 2001
Pickering-Brown SM, 2002
Janssen JC, 2002
Lantos PL, 2002
Tsuboi Y, 2003
Morris HR, 2003
Stanford PM, 2004
Doran M, 2007
Larner AJ, 2008
Colombo R, 2009
Rohrer JD, 2009
Larner AJ, 2009
Rohrer JD, 2010

61

MAPT IVS10+19C>G
   (g.123822C>G)

IVS10

Stanford PM, 2003
Rohrer JD, 2009

62

MAPT IVS10+25C>T
   (g.123828C>T)

   Not pathogenic

IVS10

Roks G, 1999

63

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

64

MAPT Leu315Arg
   (g.127672T>G)

EX11
IR2-3

Rosso SM, 2003
van Herpen E, 2003

65

MAPT Leu315
   (g.127673G>A)

EX11
IR2-3

Bird T, 2005

66

MAPT Lys317Met
   (g.127678A>T)

EX11
IR2-3

Zarranz JJ, 2004
Zarranz JJ, 2005

67

MAPT Ser320Phe
   (g.127687C>T)

EX11
R3

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

68

MAPT Gly335Ser
   (g.132033G>A)

EX12
R3

Spina S, 2007
Ghetti B, 2008

69

MAPT Gly335Val
   (g.132034G>T)

EX12
R3

Neumann M, 2005

70

MAPT Gln336Arg
   (g.132037A>G)

EX12
IR3-4

Pickering-Brown SM, 2004

71

MAPT Val337Met
   (g.132039G>A)

EX12
IR3-4

Poorkaj P, 1998

72

MAPT Glu342Val
   (g.132055A>T)

EX12
IR3-4

Lippa CF, 2000

73

MAPT Ser352Leu
   (g.132085C>T)

EX12
R4

Nicholl DJ, 2003

74

MAPT Val363Ile
   (g.132117G>A)

EX12
R4

Munoz DG, 2007
Anfossi M, 2008

75

MAPT Lys369Ile
   (g.132136A>T)

EX12
C-Term

Neumann M, 2001

76

MAPT Gly389Arg
   (g.137420G>A)

EX13
C-Term

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

77

MAPT Gly389Arg
   (g.137420G>C)

EX13
C-Term

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

78

MAPT Arg406Trp
   (g.137471C>T)

EX13
C-Term

Dickson DW, 1997
Reed LA, 1997
Hutton M, 1998
Rizzu P, 1999
van Swieten JC, 1999
Miyasaka T, 2001
Saito Y, 2002
Rosso SM, 2003
Rademakers R, 2003
Ostojic J, 2004
Passant U, 2004
Lindquist SG, 2008
Ikeuchi T, 2008
Lindquist SG, 2008
Lindquist S, 2009

79

MAPT Gln424Lys
   (g.137525C>A)

EX13
C-Term

Brice A, 2005

80

MAPT Thr427Met
   (g.137535C>T)

EX13
C-Term

Giaccone G, 2004
Giaccone G, 2005


Selection: Gene In (MAPT)



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