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1
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PSEN1 Glu184Asp
(g.44571A>C)
|
EX7
HL-III |
Yasuda M, 1997
Janssen JC, 2002
Janssen JC, 2003
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2
|
PSEN1 Val191Ala
(g.44591T>C)
Not pathogenic
|
EX7
HL-III |
Guerreiro RJ, 2010
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3
|
PSEN1 Gly206Ser
(g.44635G>A)
|
EX7
TM-IV |
Rogaeva EA, 2001
Raux G, 2005
Park HK, 2008
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4
|
PSEN1 Gly206Asp
(g.44636G>A)
|
EX7
TM-IV |
Raux G, 2005
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5
|
PSEN1 Gly206Ala
(g.44636G>C)
|
EX7
TM-IV |
Rogaeva EA, 2001
Athan ES, 2001
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6
|
PSEN1 Gly206Val
(g.44636G>T)
|
EX7
TM-IV |
Goldman JS, 2002
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7
|
PSEN1 Gly209Arg
(g.44644G>A)
|
EX7
TM-IV |
Sugiyama N, 1999
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8
|
PSEN1 Gly209Glu
(g.44645G>A)
|
EX7
TM-IV |
Rogaeva EA, 2001
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9
|
PSEN1 Gly209Val
(g.44645G>T)
|
EX7
TM-IV |
Poorkaj P, 1998
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10
|
PSEN1 Ser212Tyr
(g.44654C>A)
|
EX7
TM-IV |
Ringman JM, 2011
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11
|
PSEN1 Ile213Leu
(g.44656A>C)
|
EX7
TM-IV |
Rogaeva EA, 2001
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12
|
PSEN1 Ile213Phe
(g.44656A>T)
|
EX7
TM-IV |
Zekanowski C, 2003
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13
|
PSEN1 Ile213Thr
(g.44657T>C)
|
EX7
TM-IV |
Kamino K, 1996
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14
|
PSEN1 His214Asp
(g.44659C>G)
|
EX7
HL-IV |
Clarimón J, 2008
Guerreiro RJ, 2010
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15
|
PSEN1 His214Tyr
(g.44659C>T)
|
EX7
HL-IV |
Raux G, 2005
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16
|
PSEN1 Gly217Arg
(g.44668G>C)
|
EX7
HL-IV |
Norton JB, 2009
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17
|
PSEN1 Gly217Asp
(g.44669G>A)
|
EX7
HL-IV |
Miravalle L, 2002
Takao M, 2002
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18
|
PSEN1 Leu219Phe
(g.44674C>T)
|
EX7
HL-IV |
Terreni L, 2000
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19
|
PSEN1 Leu219Pro
(g.44675T>C)
|
EX7
HL-IV |
Smith MJ, 1999
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20
|
PSEN1 Gln222Arg
(g.44684A>G)
|
EX7
TM-V |
Rogaeva EA, 2001
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21
|
PSEN1 Gln222His
(g.44685G>C)
|
EX7
TM-V |
Miklossy J, 2003
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22
|
PSEN1 Gln223Arg
(g.44687A>G)
|
EX7
TM-V |
Uttner I, 2010
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23
|
PSEN1 Leu226Phe
(g.44695C>T)
|
EX7
TM-V |
Golan M, 2005
Zekanowski C, 2006
Gómez-Tortosa E, 2010
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24
|
PSEN1 Leu226Arg
(g.44696T>G)
|
EX7
TM-V |
Coleman P, 2004
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25
|
PSEN1 Ile229Phe
(g.44704A>T)
|
EX7
TM-V |
Janssen JC, 2002
Janssen JC, 2003
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26
|
PSEN1 Ala231Thr
(g.44710G>A)
|
EX7
TM-V |
Campion D, 1995
Campion D, 1999
Rogaeva EA, 2001
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27
|
PSEN1 Ala231Val
(g.44711C>T)
|
EX7
TM-V |
Cruts M, 1998
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28
|
PSEN1 Met233Leu
(g.44716A>C)
|
EX7
TM-V |
Aldudo J, 1999
Rogaeva EA, 2001
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29
|
PSEN1 Met233Val
(g.44716A>G)
|
EX7
TM-V |
Houlden H, 2001
|
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30
|
PSEN1 Met233Leu
(g.44716A>T)
|
EX7
TM-V |
Mendez MF, 2006
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31
|
PSEN1 Met233Thr
(g.44717T>C)
|
EX7
TM-V |
Kwok JB, 1997
Campion D, 1999
Raux G, 2005
Park HK, 2008
Guerreiro RJ, 2010
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32
|
PSEN1 Met233Ile
(g.44718G>C)
|
EX7
TM-V |
Portet F, 2003
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33
|
PSEN1 Leu235Val
(g.44722C>G)
|
EX7
TM-V |
Janssen JC, 2002
Janssen JC, 2003
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34
|
PSEN1 Leu235Pro
(g.44723T>C)
|
EX7
TM-V |
Campion D, 1996
Campion D, 1999
Rogaeva EA, 2001
Finckh U, 2005
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35
|
PSEN1 Phe237Ile
(g.44728T>A)
|
EX7
TM-V |
Sodeyama N, 2001
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36
|
PSEN1 Phe237Leu
(g.44728T>C)
|
EX7
TM-V |
Janssen JC, 2002
Janssen JC, 2003
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37
|
PSEN1 Ile238Met
(g.44733C>G)
Pathogenic nature unclear
|
EX7
TM-V |
Ringman JM, 2011
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38
|
PSEN1 Lys239Asn
(g.44736G>C)
|
EX7
HL-V |
Lladó A, 2010
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39
|
PSEN1 Thr245Pro
(g.44752A>C)
|
EX7
TM-VI |
Edwards-Lee T, 2006
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40
|
PSEN1 Ala246Glu
(g.44756C>A)
|
EX7
TM-VI |
Sherrington R, 1995
Kowalska A, 2003
Kowalska A, 2004
Kowalska A, 2004
Gliebus G, 2009
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41
|
PSEN1 Leu248Arg
(g.44762T>G)
|
EX7
TM-VI |
Clarimón J, 2008
Guerreiro RJ, 2010
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42
|
PSEN1 Leu250Val
(g.44767T>G)
|
EX7
TM-VI |
Furuya H, 2003
Mehrabian S, 2005
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43
|
PSEN1 Leu250Ser
(g.44768T>C)
|
EX7
TM-VI |
Hutton M, 1996
Harvey RJ, 1998
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44
|
PSEN1 Tyr256Ser
(g.44786A>C)
|
EX7
TM-VI |
Miklossy J, 2003
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