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Mutations in
LRRK2
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1
|
LRRK2 Leu153
(g.17979T>C)
Not pathogenic
|
EX5
N-term |
Mata IF, 2005
Tan EK, 2010
|
|  |
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2
|
LRRK2 Lys182
(g.18068A>G)
Not pathogenic
|
EX5
N-term |
Mata IF, 2005
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3
|
LRRK2 Ser461
(g.37332T>C)
Not pathogenic
|
EX12
N-term |
Mata IF, 2005
Nichols WC, 2007
|
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4
|
LRRK2 Asn551Lys
(g.43888C>G)
Not pathogenic
|
EX14
N-term |
Mata IF, 2005
Tan EK, 2010
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5
|
LRRK2 Ile723Val
(g.58177A>G)
Not pathogenic
|
EX18
Ankyrin-like |
Mata IF, 2005
Tan EK, 2010
|
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6
|
LRRK2 Lys1423
(g.89175G>A)
Not pathogenic
|
EX30
ROC |
Mata IF, 2005
Tan EK, 2010
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7
|
LRRK2 Arg1441Gly
(g.90424C>G)
|
EX31
ROC |
Paisán-Ruíz C, 2004
Mata IF, 2005
Mata IF, 2005
Gaig C, 2006
Simón-Sánchez J, 2006
Dächsel JC, 2006
Deng H, 2006
González-Fernández MC, 2007
Gómez-Esteban JC, 2008
Gao L, 2009
Gorostidi A, 2009
Mata IF, 2009
Martí-Massó JF, 2009
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8
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LRRK2 Arg1441Cys
(g.90424C>T)
|
EX31
ROC |
Zimprich A, 2004
Zabetian CP, 2005
Goldwurm S, 2005
Mata IF, 2005
Di Fonzo A, 2006
Gaig C, 2006
Tan EK, 2006
Hedrich K, 2006
Pankratz N, 2006
Gosal D, 2007
Nuytemans K, 2008
Haugarvoll K, 2008
Pchelina SN, 2008
Latourelle JC, 2008
Floris G, 2009
Shojaee S, 2009
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9
|
LRRK2 Arg1441His
(g.90425G>A)
|
EX31
ROC |
Zabetian CP, 2005
Mata IF, 2005
Spanaki C, 2006
Huang Y, 2007
Ferreira JJ, 2007
Lin CH, 2008
Lesage S, 2009
|
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10
|
LRRK2 Arg1514Gln
(g.93966G>A)
Not pathogenic
|
EX32
COR |
Zimprich A, 2004
Mata IF, 2005
Di Fonzo A, 2006
Nichols WC, 2007
Toft M, 2007
Haubenberger D, 2007
Paisán-Ruíz C, 2008
Nuytemans K, 2009
|
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11
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LRRK2 Pro1542Ser
(g.94049C>T)
Not pathogenic
|
EX32
COR |
Mata IF, 2005
Di Fonzo A, 2006
Nichols WC, 2007
Johnson J, 2007
Paisán-Ruíz C, 2008
Nuytemans K, 2009
Lesage S, 2009
|
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12
|
LRRK2 Arg1628Pro
(g.100036G>C)
Not pathogenic
|
EX34
COR |
Mata IF, 2005
Ross OA, 2008
Lu CS, 2008
Tan EK, 2008
Tan EK, 2008
Zhang Z, 2009
Yu L, 2009
Tan EK, 2010
|
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13
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LRRK2 Lys1637
(g.100061A>G)
Not pathogenic
|
EX34
COR |
Mata IF, 2005
Tan EK, 2010
|
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14
|
LRRK2 Met1646Thr
(g.100087T>C)
Not pathogenic
|
EX34
COR |
Paisán-Ruíz C, 2004
Zimprich A, 2004
Mata IF, 2005
Di Fonzo A, 2006
Nichols WC, 2007
Johnson J, 2007
Paisán-Ruíz C, 2008
Nuytemans K, 2009
Lesage S, 2009
|
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15
|
LRRK2 Ser1647Thr
(g.100089T>A)
Not pathogenic
|
EX34
COR |
Mata IF, 2005
Tan EK, 2010
|
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16
|
LRRK2 Gly1819
(g.102448T>C)
Not pathogenic
|
EX37
COR |
Mata IF, 2005
Tan EK, 2010
|
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17
|
LRRK2 Met1869Thr
(g.103246T>C)
Pathogenic nature unclear
|
EX38
COR |
Farrer M, 2005
Mata IF, 2005
|
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18
|
LRRK2 Gly2019Ser
(g.120390G>A)
|
EX41
Kinase |
Di Fonzo A, 2005
Gilks WP, 2005
Nichols WC, 2005
Hernandez DG, 2005
Kachergus J, 2005
Aasly JO, 2005
Deng H, 2005
Kay DM, 2005
Lesage S, 2005
Gosal D, 2005
Farrer M, 2005
Paisán-Ruíz C, 2005
Zabetian CP, 2005
Goldwurm S, 2005
Lesage S, 2005
Biskup S, 2005
Bras JM, 2005
Khan NL, 2005
Mata IF, 2005
Hernandez D, 2005
Lesage S, 2006
Ozelius LJ, 2006
Giasson BI, 2006
Ross OA, 2006
Di Fonzo A, 2006
Gaig C, 2006
Infante J, 2006
Kay DM, 2006
Mata IF, 2006
Williams-Gray CH, 2006
Schlitter AM, 2006
Saunders-Pullman R, 2006
Isaias IU, 2006
Marongiu R, 2006
Tomiyama H, 2006
Zabetian CP, 2006
Hedrich K, 2006
Ishihara L, 2006
Papapetropoulos S, 2006
Carmine Belin A, 2006
Goldwurm S, 2006
Zabetian CP, 2006
Rajput A, 2006
Spanaki C, 2006
Clark LN, 2006
Funalot B, 2006
Pchelina SN, 2006
Punia S, 2006
Scholz S, 2006
Dächsel JC, 2006
Deng H, 2006
Ishihara L, 2007
Xiromerisiou G, 2007
Giordana MT, 2007
Cossu G, 2007
Lesage S, 2007
Civitelli D, 2007
Illarioshkin SN, 2007
Goldwurm S, 2007
Dächsel JC, 2007
Huang Y, 2007
Gaig C, 2007
Ferreira JJ, 2007
Perez-Pastene C, 2007
Orr-Urtreger A, 2007
Nichols WC, 2007
González-Fernández MC, 2007
Johnson J, 2007
Lesage S, 2007
Squillaro T, 2007
Bras J, 2008
Munhoz RP, 2008
Chen-Plotkin AS, 2008
Pimentel MM, 2008
Paisán-Ruíz C, 2008
Healy DG, 2008
Hulihan MM, 2008
Möller JC, 2008
Pchelina SN, 2008
Aguiar P de C, 2008
Gaig C, 2008
Marras C, 2008
Change N, 2008
Djaldetti R, 2008
Lesage S, 2008
Latourelle JC, 2008
Santos-Rebouças CB, 2008
Covy JP, 2009
Mellick GD, 2009
Barsottini OG, 2009
De Rosa A, 2009
Hassin-Baer S, 2009
Patra B, 2009
Gao L, 2009
Gorostidi A, 2009
Lesage S, 2009
Munhoz RP, 2009
Rizzo G, 2009
Floris G, 2009
Zabetian CP, 2009
Mata IF, 2009
Pirkevi C, 2009
Abdalla-Carvalho CB, 2010
Bardien S, 2010
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19
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LRRK2 Glu2108
(g.128442G>A)
Not pathogenic
|
EX43
Kinase |
Mata IF, 2005
Tan EK, 2010
|
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20
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LRRK2 Gly2170
(g.131657C>A)
Not pathogenic
|
EX44
WD40 |
Mata IF, 2005
Paisán-Ruíz C, 2008
|
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21
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LRRK2 Gly2385Arg
(g.143516G>A)
Pathogenic nature unclear
|
EX48
WD40 |
Mata IF, 2005
Di Fonzo A, 2006
Fung HC, 2006
Tan EK, 2007
Funayama M, 2007
Farrer MJ, 2007
Tan EK, 2007
Tan EK, 2007
Li C, 2007
An XK, 2008
Chan DK, 2008
Lin CH, 2008
Choi JM, 2008
Tan EK, 2008
Lu CS, 2008
Tan EK, 2009
Tan EK, 2009
Nuytemans K, 2009
Zabetian CP, 2009
Wu YR, 2009
Chang TY, 2010
Kim JM, 2010
Tan EK, 2010
|
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22
|
LRRK2 Gly2385
(g.143518A>G)
Not pathogenic
|
EX48
WD40 |
Mata IF, 2005
Di Fonzo A, 2006
Lesage S, 2009
Shojaee S, 2009
Tan EK, 2010
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Selection: Publication ID = 56
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