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Mutations in
MAPT
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1
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MAPT Arg5His
(g.75756G>A)
|
EX1
N-Term |
Hayashi S, 2002
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2
|
MAPT Arg5Leu
(g.75756G>T)
|
EX1
N-Term |
Poorkaj P, 2002
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3
|
MAPT His14
(g.75784C>T)
Not pathogenic
|
EX1
N-Term |
Guerreiro RJ, 2010
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4
|
MAPT Thr17Met
(g.75792C>T)
Not pathogenic
|
EX1
N-Term |
Guerreiro RJ, 2010
|
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5
|
MAPT Tyr18
(g.75796C>T)
Not pathogenic
|
EX1
N-Term |
Houlden H, 1999
Guerreiro RJ, 2010
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6
|
MAPT Thr30Ala
(g.75830A>G)
Not pathogenic
|
EX1
N-Term |
Guerreiro RJ, 2010
|
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7
|
MAPT Thr39
(g.75859G>A)
Not pathogenic
|
EX1
N-Term |
Houlden H, 1999
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8
|
MAPT Val75Ala
(g.12051T>C)
Pathogenic nature unclear
|
EX3
|
Gallo M, 2009
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9
|
MAPT Gly86Ser
(g.87825G>A)
Not pathogenic
|
EX3
N-Term |
Stanford PM, 2004
|
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10
|
MAPT Pro202Leu
(g.96815C>T)
Not pathogenic
|
EX4a
|
Ingelson M, 2001
Stanford PM, 2004
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11
|
MAPT Gln230Arg
(g.96899A>G)
Not pathogenic
|
EX4a
|
Rademakers R, 2004
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12
|
MAPT Asp285Asn
(g.97063G>A)
Not pathogenic
|
EX4a
|
Poorkaj P, 1998
Higgins JJ, 1999
Higgins JJ, 2000
Ingelson M, 2001
Stanford PM, 2004
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13
|
MAPT Asp285
(g.97065C>T)
Not pathogenic
|
EX4a
|
Poorkaj P, 1998
Rademakers R, 2004
Stanford PM, 2004
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14
|
MAPT Val289Ala
(g.97076T>C)
Not pathogenic
|
EX4a
|
Poorkaj P, 1998
Higgins JJ, 1999
Higgins JJ, 2000
Ingelson M, 2001
Stanford PM, 2004
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15
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MAPT Arg370Trp
(g.97318C>T)
Not pathogenic
|
EX4a
|
Ingelson M, 2001
Sobrido MJ, 2003
Stanford PM, 2004
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16
|
MAPT EX6 His47Tyr
(g.103422T>C)
Not pathogenic
|
EX6
|
Poorkaj P, 1998
Crawford F, 1999
Stanford PM, 2004
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17
|
MAPT EX6 Ser53Pro
(g.103440T>C)
Not pathogenic
|
EX6
|
Poorkaj P, 1998
Crawford F, 1999
Ingelson M, 2001
Stanford PM, 2004
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18
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MAPT Pro176
(g.104964G>A)
Not pathogenic
|
EX7
|
Rizzu P, 1999
Poorkaj P, 2001
Kowalska A, 2001
Levchenko A, 2004
Stanford PM, 2004
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19
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MAPT Ala178Thr
(g.104968G>A)
Not pathogenic
|
EX7
|
Houlden H, 1999
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20
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MAPT EX8 Thr2
(g.107334T>C)
Not pathogenic
|
EX8
|
Higgins JJ, 1999
Higgins JJ, 2000
Ingelson M, 2001
Kowalska A, 2001
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21
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MAPT Pro200
(g.109848C>T)
Not pathogenic
|
EX9
|
Guerreiro RJ, 2010
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22
|
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
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23
|
MAPT Ala239Thr
(g.109963G>A)
Not pathogenic
|
EX9
|
Pickering-Brown SM, 2002
Pickering-Brown SM, 2006
|
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24
|
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
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25
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MAPT Lys257Thr
(g.110018A>C)
|
EX9
R1 |
Rizzini C, 2000
Pickering-Brown S, 2000
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26
|
MAPT Ile260Val
(g.110026A>G)
|
EX9
R1 |
Grover A, 2003
|
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27
|
MAPT Leu266Val
(g.110044C>G)
|
EX9
R1 |
Kobayashi T, 2003
Hogg M, 2003
|
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28
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MAPT Leu266
(g.110046G>A)
Not pathogenic
|
EX9
R1 |
Guerreiro RJ, 2010
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29
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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
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30
|
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
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31
|
MAPT Gly273Arg
(g.110065G>A)
|
EX9
R1 |
van der Zee J, 2006
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32
|
MAPT IVS9-10G>T;g(-10)t
(g.123701G>T)
|
IVS9
|
Malkani R, 2006
|
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33
|
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
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34
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MAPT ΔK280;ΔK281
(g.123729_123731delAAG)
Pathogenic nature unclear
|
EX10
IR1-2 |
Rizzu P, 1999
Rosso SM, 2003
Momeni P, 2009
Rohrer JD, 2009
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35
|
MAPT Leu284
(g.123740T>C)
|
EX10
IR1-2 |
D'Souza I, 1999
Poorkaj P, 2001
|
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36
|
MAPT Asn296His
(g.123774A>C)
|
EX10
R2 |
Iseki E, 2001
|
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37
|
MAPT ΔN296
(g.123775_123777delATA)
|
EX10
R2 |
Pastor P, 2001
Ferrer I, 2003
Oliva R, 2004
Rossi G, 2004
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38
|
MAPT Asn296
(g.123776T>C)
|
EX10
R2 |
Brown J, 1996
Spillantini MG, 2000
Rohrer JD, 2009
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39
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MAPT Pro301Thr
(g.123789C>A)
|
EX10
R2 |
Lladó A, 2007
Guerreiro RJ, 2010
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40
|
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
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41
|
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
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42
|
MAPT Pro301
(g.123791G>A)
Not pathogenic
|
EX10
R2 |
Miyamoto K, 2001
|
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43
|
MAPT Gly303Val
(g.123796G>T)
|
EX10
R2 |
Rojo A, 1999
Ros R, 2005
|
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44
|
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
|
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45
|
MAPT Ser305Ile
(g.123802G>T)
|
EX10
IR2-3 |
Kovacs GG, 2008
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46
|
MAPT Ser305
(g.123803T>C)
|
EX10
IR2-3 |
Spillantini MG, 2000
Stanford PM, 2000
Wszolek ZK, 2001
Skoglund L, 2008
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47
|
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
|
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48
|
MAPT IVS10+11T>C
(g.123814T>C)
|
IVS10
|
Miyamoto K, 2001
Kowalska A, 2002
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49
|
MAPT IVS10+12C>T
(g.123815C>T)
|
IVS10
|
Takamatsu, 1998
Hutton M, 2000
Yasuda M, 2000
|
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50
|
MAPT IVS10+13A>G
(g.123816A>G)
|
IVS10
|
Hutton M, 1998
Houlden H, 1999
Pickering-Brown SM, 2002
|
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51
|
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
|
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52
|
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
|
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53
|
MAPT IVS10+19C>G
(g.123822C>G)
|
IVS10
|
Stanford PM, 2003
Rohrer JD, 2009
|
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54
|
MAPT IVS10+25C>T
(g.123828C>T)
Not pathogenic
|
IVS10
|
Roks G, 1999
|
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55
|
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
|
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56
|
MAPT Leu315Arg
(g.127672T>G)
|
EX11
IR2-3 |
Rosso SM, 2003
van Herpen E, 2003
|
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|
57
|
MAPT Leu315
(g.127673G>A)
|
EX11
IR2-3 |
Bird T, 2005
|
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|
58
|
MAPT Lys317Met
(g.127678A>T)
|
EX11
IR2-3 |
Zarranz JJ, 2004
Zarranz JJ, 2005
|
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|
59
|
MAPT Ser320Phe
(g.127687C>T)
|
EX11
R3 |
Rosso SM, 2002
Rosso SM, 2003
Rohrer JD, 2009
Rohrer JD, 2010
|
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60
|
MAPT Gly335Ser
(g.132033G>A)
|
EX12
R3 |
Spina S, 2007
Ghetti B, 2008
|
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61
|
MAPT Gly335Val
(g.132034G>T)
|
EX12
R3 |
Neumann M, 2005
|
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62
|
MAPT Gln336Arg
(g.132037A>G)
|
EX12
IR3-4 |
Pickering-Brown SM, 2004
|
| |
|
63
|
MAPT Val337Met
(g.132039G>A)
|
EX12
IR3-4 |
Poorkaj P, 1998
|
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|
64
|
MAPT Glu342Val
(g.132055A>T)
|
EX12
IR3-4 |
Lippa CF, 2000
|
| |
|
65
|
MAPT Ser352Leu
(g.132085C>T)
|
EX12
R4 |
Nicholl DJ, 2003
|
| |
|
66
|
MAPT Val363Ile
(g.132117G>A)
|
EX12
R4 |
Munoz DG, 2007
Anfossi M, 2008
|
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67
|
MAPT Lys369Ile
(g.132136A>T)
|
EX12
C-Term |
Neumann M, 2001
|
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|
68
|
MAPT Gly389Arg
(g.137420G>A)
|
EX13
C-Term |
Pickering-Brown S, 2000
Bermingham N, 2008
Rohrer JD, 2010
|
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69
|
MAPT Gly389Arg
(g.137420G>C)
|
EX13
C-Term |
Murrell JR, 1999
Ghetti B, 2000
Rossi G, 2008
|
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|
70
|
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
|
| |
|
71
|
MAPT Gln424Lys
(g.137525C>A)
|
EX13
C-Term |
Brice A, 2005
|
| |
|
72
|
MAPT Thr427Met
(g.137535C>T)
|
EX13
C-Term |
Giaccone G, 2004
Giaccone G, 2005
|
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Selection: Gene = MAPT
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