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Mutations in
MAPT
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1
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MAPT Asn279Lys
(g.123725T>G)
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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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2
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MAPT ΔK280;ΔK281
(g.123729_123731delAAG)
Pathogenic nature unclear
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EX10
IR1-2 |
Rizzu P, 1999
Rosso SM, 2003
Momeni P, 2009
Rohrer JD, 2009
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3
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MAPT Leu284
(g.123740T>C)
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EX10
IR1-2 |
D'Souza I, 1999
Poorkaj P, 2001
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4
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MAPT Asn296His
(g.123774A>C)
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EX10
R2 |
Iseki E, 2001
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5
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MAPT ΔN296
(g.123775_123777delATA)
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EX10
R2 |
Pastor P, 2001
Ferrer I, 2003
Oliva R, 2004
Rossi G, 2004
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6
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MAPT Asn296
(g.123776T>C)
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EX10
R2 |
Brown J, 1996
Spillantini MG, 2000
Rohrer JD, 2009
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7
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MAPT Pro301Thr
(g.123789C>A)
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EX10
R2 |
Lladó A, 2007
Guerreiro RJ, 2010
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8
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MAPT Pro301Ser
(g.123789C>T)
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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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9
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MAPT Pro301Leu
(g.123790C>T)
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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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10
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MAPT Pro301
(g.123791G>A)
Not pathogenic
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EX10
R2 |
Miyamoto K, 2001
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11
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MAPT Gly303Val
(g.123796G>T)
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EX10
R2 |
Rojo A, 1999
Ros R, 2005
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12
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MAPT Ser305Asn
(g.123802G>A)
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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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13
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MAPT Ser305Ile
(g.123802G>T)
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EX10
IR2-3 |
Kovacs GG, 2008
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14
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MAPT Ser305
(g.123803T>C)
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EX10
IR2-3 |
Spillantini MG, 2000
Stanford PM, 2000
Wszolek ZK, 2001
Skoglund L, 2008
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Selection: Gene = MAPT EX10
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