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Mutations in
LRRK2
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1
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LRRK2 c.-30G>C
(g.5092G>C)
Pathogenic nature unclear
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EX1
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Lesage S, 2009
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2
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LRRK2 Ser52Phe
(g.5548C>T)
Pathogenic nature unclear
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EX2
N-term |
Lesage S, 2009
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3
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LRRK2 Leu119Pro
(g.15624T>C)
Not pathogenic
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EX4
N-term |
Zimprich A, 2004
Di Fonzo A, 2006
Paisán-Ruíz C, 2008
Nuytemans K, 2009
Lesage S, 2009
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4
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LRRK2 His275
(g.23658T>C)
Not pathogenic
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EX7
N-term |
Paisán-Ruíz C, 2008
Lesage S, 2009
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5
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LRRK2 Glu334Lys
(g.31263G>A)
Pathogenic nature unclear
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EX9
N-term |
Nichols WC, 2007
Lesage S, 2009
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6
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LRRK2 Asn363Ser
(g.31351A>G)
Pathogenic nature unclear
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EX9
N-term |
Lesage S, 2009
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7
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LRRK2 Val674
(g.57958A>C)
Not pathogenic
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EX17
N-term |
Lesage S, 2009
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8
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LRRK2 Ile810Val
(g.64051A>G)
Pathogenic nature unclear
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EX19
Ankyrin-like |
Lesage S, 2009
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9
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LRRK2 His1216Arg
(g.83994A>G)
Not pathogenic
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EX27
LRR |
Lesage S, 2009
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10
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LRRK2 Arg1325Gln
(g.88471G>A)
Pathogenic nature unclear
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EX29
L2 |
Nuytemans K, 2008
Lesage S, 2009
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11
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LRRK2 Ile1371Val
(g.88608A>G)
Pathogenic nature unclear
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EX29
ROC |
Paisán-Ruíz C, 2005
Di Fonzo A, 2006
Lesage S, 2009
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12
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LRRK2 Thr1410Met
(g.89135C>T)
Pathogenic nature unclear
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EX30
ROC |
Lesage S, 2009
Abdalla-Carvalho CB, 2010
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13
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LRRK2 IVS30+12delT
(g.89235delT)
Not pathogenic
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IVS30
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Di Fonzo A, 2006
Paisán-Ruíz C, 2008
Lesage S, 2009
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14
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LRRK2 Arg1441His
(g.90425G>A)
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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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15
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LRRK2 Pro1542Ser
(g.94049C>T)
Not pathogenic
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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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16
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LRRK2 IVS32+14G>A
(g.94177G>A)
Pathogenic nature unclear
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IVS32
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Lesage S, 2009
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17
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LRRK2 Met1646Thr
(g.100087T>C)
Not pathogenic
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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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18
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LRRK2 Gly2019Ser
(g.120390G>A)
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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 IVS46-14T>A
(g.139236T>A)
Pathogenic nature unclear
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IVS46
|
Lesage S, 2009
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20
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LRRK2 IVS46-8delT
(g.139242delT)
Pathogenic nature unclear
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IVS46
|
Lesage S, 2009
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21
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LRRK2 Gly2385
(g.143518A>G)
Not pathogenic
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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 = 179
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