|
Mutations in
LRRK2
|  |
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1
|
LRRK2 c.-44G>T
(g.5078G>T)
Pathogenic nature unclear
|
EX1
|
Paisán-Ruíz C, 2008
|
|  |
|
2
|
LRRK2 c.-30G>C
(g.5092G>C)
Pathogenic nature unclear
|
EX1
|
Lesage S, 2009
|
| |
|
3
|
LRRK2 Glu10Lys
(g.5149G>A)
Pathogenic nature unclear
|
EX1
N-term |
Nichols WC, 2007
|
| |
|
4
|
LRRK2 Ser52Phe
(g.5548C>T)
Pathogenic nature unclear
|
EX2
N-term |
Lesage S, 2009
|
| |
|
5
|
LRRK2 Leu119Pro
(g.15624T>C)
Not pathogenic
|
EX4
N-term |
Zimprich A, 2004
Di Fonzo A, 2006
Paisán-Ruíz C, 2008
Nuytemans K, 2009
Lesage S, 2009
|
| |
|
6
|
LRRK2 Leu153
(g.17979T>C)
Not pathogenic
|
EX5
N-term |
Mata IF, 2005
Tan EK, 2010
|
| |
|
7
|
LRRK2 Lys182
(g.18068A>G)
Not pathogenic
|
EX5
N-term |
Mata IF, 2005
|
| |
|
8
|
LRRK2 Ala211Val
(g.20533C>T)
Pathogenic nature unclear
|
EX6
N-term |
Xiromerisiou G, 2007
Nuytemans K, 2009
|
| |
|
9
|
LRRK2 Cys228Ser
(g.20584G>C)
Not pathogenic
|
EX6
N-term |
Paisán-Ruíz C, 2008
|
| |
|
10
|
LRRK2 His275
(g.23658T>C)
Not pathogenic
|
EX7
N-term |
Paisán-Ruíz C, 2008
Lesage S, 2009
|
| |
|
11
|
LRRK2 Asn289
(g.29844C>T)
Not pathogenic
|
EX8
N-term |
Paisán-Ruíz C, 2008
|
| |
|
12
|
LRRK2 Glu334Lys
(g.31263G>A)
Pathogenic nature unclear
|
EX9
N-term |
Nichols WC, 2007
Lesage S, 2009
|
| |
|
13
|
LRRK2 Asn363Ser
(g.31351A>G)
Pathogenic nature unclear
|
EX9
N-term |
Lesage S, 2009
|
| |
|
14
|
LRRK2 Val366Met
(g.31359G>A)
Pathogenic nature unclear
|
EX9
N-term |
Nuytemans K, 2009
|
| |
|
15
|
LRRK2 IVS9-10C>A
(g.31445G>A)
Not pathogenic
|
IVS9
|
Di Fonzo A, 2006
|
| |
|
16
|
LRRK2 IVS10-4A>G
(g.32896A>G)
Not pathogenic
|
IVS10
|
Paisán-Ruíz C, 2008
|
| |
|
17
|
LRRK2 Ala419Val
(g.32974C>T)
Not pathogenic
|
EX11
N-term |
Di Fonzo A, 2006
Nuytemans K, 2009
Tan EK, 2010
|
| |
|
18
|
LRRK2 Ser461
(g.37332T>C)
Not pathogenic
|
EX12
N-term |
Mata IF, 2005
Nichols WC, 2007
|
| |
|
19
|
LRRK2 Leu488
(g.39515A>T)
Not pathogenic
|
EX13
N-term |
Nichols WC, 2007
|
| |
|
20
|
LRRK2 Arg506Gln
(g.39568G>A)
Pathogenic nature unclear
|
EX13
N-term |
Nuytemans K, 2009
|
| |
|
21
|
LRRK2 Lys544Glu
(g.43865A>G)
Pathogenic nature unclear
|
EX14
N-term |
Xiromerisiou G, 2007
|
| |
|
22
|
LRRK2 Asn551Lys
(g.43888C>G)
Not pathogenic
|
EX14
N-term |
Mata IF, 2005
Tan EK, 2010
|
| |
|
23
|
LRRK2 Lys616Arg
(g.054889A>G)
Pathogenic nature unclear
|
EX16
N-term |
Wang L, 2010
|
| |
|
24
|
LRRK2 IVS16-14delT
(g.57864delT)
Not pathogenic
|
IVS16
|
Paisán-Ruíz C, 2008
|
| |
|
25
|
LRRK2 Val674
(g.57958A>C)
Not pathogenic
|
EX17
N-term |
Lesage S, 2009
|
| |
|
26
|
LRRK2 Tyr707
(g.58131C>T)
Not pathogenic
|
EX18
Ankyrin-like |
Paisán-Ruíz C, 2008
|
| |
|
27
|
LRRK2 Met712Val
(g.58144A>G)
Pathogenic nature unclear
|
EX18
Ankyrin-like |
Paisán-Ruíz C, 2008
|
| |
|
28
|
LRRK2 Ala716Val
(g.58157C>T)
Not pathogenic
|
EX18
Ankyrin-like |
Paisán-Ruíz C, 2008
|
| |
|
29
|
LRRK2 Ile723Val
(g.58177A>G)
Not pathogenic
|
EX18
Ankyrin-like |
Mata IF, 2005
Tan EK, 2010
|
| |
|
30
|
LRRK2 Pro755Leu
(g.63887C>T)
Not pathogenic
|
EX19
Ankyrin-like |
Di Fonzo A, 2006
Tan EK, 2008
Tomiyama H, 2008
Tan EK, 2010
|
| |
|
31
|
LRRK2 Arg793Met
(g.64001G>T)
Pathogenic nature unclear
|
EX19
Ankyrin-like |
Zimprich A, 2004
Farrer M, 2005
Berg D, 2005
Toft M, 2007
Chen-Plotkin AS, 2008
Covy JP, 2009
|
| |
|
32
|
LRRK2 Ile810Val
(g.64051A>G)
Pathogenic nature unclear
|
EX19
Ankyrin-like |
Lesage S, 2009
|
| |
|
33
|
LRRK2 Ser827
(g.64106T>C)
Not pathogenic
|
EX19
Ankyrin-like |
Nichols WC, 2007
|
| |
|
34
|
LRRK2 IVS19+5_8delGTAA
(g.64128_64131delGTAA)
Pathogenic nature unclear
|
IVS19
|
Johnson J, 2007
|
| |
|
35
|
LRRK2 IVS19-9_8insT
(g.67332_67333insT)
Not pathogenic
|
IVS19
|
Di Fonzo A, 2006
|
| |
|
36
|
LRRK2 Lys871Glu
(g.67451A>G)
Not pathogenic
|
EX20
L1 |
Paisán-Ruíz C, 2008
|
| |
|
37
|
LRRK2 Gln923His
(g.73614G>C)
Pathogenic nature unclear
|
EX21
L1 |
Camargos ST, 2009
|
| |
|
38
|
LRRK2 Leu929
(g.073632G>A)
Not pathogenic
|
EX21
L1 |
Shojaee S, 2009
|
| |
|
39
|
LRRK2 Gln930Arg
(g.73634A>G)
Pathogenic nature unclear
|
EX21
L1 |
Berg D, 2005
|
| |
|
40
|
LRRK2 Leu953
(g.74883T>C)
Not pathogenic
|
EX22
L1 |
Paisán-Ruíz C, 2005
Tan EK, 2010
|
| |
|
41
|
LRRK2 Ser973Asn
(g.75456G>A)
Pathogenic nature unclear
|
EX25
L1 |
Haubenberger D, 2007
|
| |
|
42
|
LRRK2 Ile1006Met
(g.75556A>G)
Pathogenic nature unclear
|
EX23
LRR |
Nuytemans K, 2009
|
| |
|
43
|
LRRK2 Arg1067Gln
(g.78336G>A)
Pathogenic nature unclear
|
EX24
LRR |
Skipper L, 2005
Zabetian CP, 2009
|
| |
|
44
|
LRRK2 Ser1096Cys
(g.78423C>G)
Pathogenic nature unclear
|
EX24
LRR |
Berg D, 2005
|
| |
|
45
|
LRRK2 Gln1111His
(g.78469G>T)
Pathogenic nature unclear
|
EX24
LRR |
Nichols WC, 2007
|
| |
|
46
|
LRRK2 Leu1114
(g.78478A>G)
Pathogenic nature unclear
|
EX24
LRR |
Zimprich A, 2004
Farrer M, 2005
Berg D, 2005
|
| |
|
47
|
LRRK2 Ile1122Val
(g.79115A>G)
Pathogenic nature unclear
|
EX25
LRR |
Zimprich A, 2004
|
| |
|
48
|
LRRK2 Ala1151Thr
(g.79202G>A)
Not pathogenic
|
EX25
LRR |
Schlitter AM, 2006
Hedrich K, 2006
|
| |
|
49
|
LRRK2 Leu1165Pro
(g.79245T>C)
Pathogenic nature unclear
|
EX25
LRR |
Chen-Plotkin AS, 2008
Covy JP, 2009
|
| |
|
50
|
LRRK2 IVS25-8delT
(g.82771delT)
Pathogenic nature unclear
|
IVS25
|
Paisán-Ruíz C, 2008
|
| |
|
51
|
LRRK2 Ile1192Val
(g.82856A>G)
Pathogenic nature unclear
|
EX26
LRR |
Nichols WC, 2007
|
| |
|
52
|
LRRK2 His1216Arg
(g.83994A>G)
Not pathogenic
|
EX27
LRR |
Lesage S, 2009
|
| |
|
53
|
LRRK2 Ser1228Thr
(g.84030G>C)
Pathogenic nature unclear
|
EX27
LRR |
Berg D, 2005
Macedo MG, 2009
|
| |
|
54
|
LRRK2 IVS27-9C>T
(g.85764C>T)
Pathogenic nature unclear
|
IVS27
|
Paisán-Ruíz C, 2008
|
| |
|
55
|
LRRK2 Pro1262Ala
(g.85781C>G)
Not pathogenic
|
EX28
LRR |
Paisán-Ruíz C, 2008
|
| |
|
56
|
LRRK2 Arg1325Gln
(g.88471G>A)
Pathogenic nature unclear
|
EX29
L2 |
Nuytemans K, 2008
Lesage S, 2009
|
| |
|
57
|
LRRK2 Ile1371Val
(g.88608A>G)
Pathogenic nature unclear
|
EX29
ROC |
Paisán-Ruíz C, 2005
Di Fonzo A, 2006
Lesage S, 2009
|
| |
|
58
|
LRRK2 Arg1398His
(g.89099G>A)
Not pathogenic
|
EX30
ROC |
Paisán-Ruíz C, 2005
Tan EK, 2010
|
| |
|
59
|
LRRK2 Arg1398
(g.089100T>G)
Not pathogenic
|
EX30
ROC |
Abdalla-Carvalho CB, 2010
|
| |
|
60
|
LRRK2 Thr1410Met
(g.89135C>T)
Pathogenic nature unclear
|
EX30
ROC |
Lesage S, 2009
Abdalla-Carvalho CB, 2010
|
| |
|
61
|
LRRK2 Asp1420Asn
(g.89164G>A)
Not pathogenic
|
EX30
ROC |
Gao L, 2009
|
| |
|
62
|
LRRK2 Lys1423
(g.89175G>A)
Not pathogenic
|
EX30
ROC |
Mata IF, 2005
Tan EK, 2010
|
| |
|
63
|
LRRK2 Ala1430
(g.89196C>T)
Not pathogenic
|
EX30
ROC |
Paisán-Ruíz C, 2008
|
| |
|
64
|
LRRK2 IVS30+12delT
(g.89235delT)
Not pathogenic
|
IVS30
|
Di Fonzo A, 2006
Paisán-Ruíz C, 2008
Lesage S, 2009
|
| |
|
65
|
LRRK2 IVS30-6C>T
(g.90415C>T)
Pathogenic nature unclear
|
IVS30
|
Nuytemans K, 2009
|
| |
|
66
|
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
|
| |
|
67
|
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
|
| |
|
68
|
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
|
| |
|
69
|
LRRK2 Arg1441
(g.90426C>T)
Pathogenic nature unclear
|
EX31
ROC |
Gaig C, 2008
|
| |
|
70
|
LRRK2 Ala1442Pro
(g.90427G>C)
Pathogenic nature unclear
|
EX31
ROC |
Huang Y, 2007
|
| |
|
71
|
LRRK2 Pro1446Leu
(g.90440C>T)
Not pathogenic
|
EX31
ROC |
Zabetian CP, 2009
|
| |
|
72
|
LRRK2 Val1450Ile
(g.90451G>A)
Not pathogenic
|
EX31
ROC |
Zabetian CP, 2009
|
| |
|
73
|
LRRK2 Lys1468Glu
(g.90505A>G)
Pathogenic nature unclear
|
EX31
ROC |
Nuytemans K, 2008
|
| |
|
74
|
LRRK2 Arg1483Gln
(g.90551G>A)
Pathogenic nature unclear
|
EX31
ROC |
Nuytemans K, 2008
|
| |
|
75
|
LRRK2 IVS31+3A>G
(g.90642A>G)
Pathogenic nature unclear
|
IVS31
COR |
Zabetian CP, 2005
Shojaee S, 2009
|
| |
|
76
|
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
|
| |
|
77
|
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
|
| |
|
78
|
LRRK2 IVS32+14G>A
(g.94177G>A)
Pathogenic nature unclear
|
IVS32
|
Lesage S, 2009
|
| |
|
79
|
LRRK2 IVS33+6T>A
(g.95296T>A)
Pathogenic nature unclear
|
IVS33
|
Skipper L, 2005
|
| |
|
80
|
LRRK2 Val1613Ala
(g.99988T>C)
Pathogenic nature unclear
|
EX34
COR |
Pchelina SN, 2008
|
| |
|
81
|
LRRK2 Gly1624
(g.100022C>A)
Not pathogenic
|
EX34
COR |
Paisán-Ruíz C, 2005
|
| |
|
82
|
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
|
| |
|
83
|
LRRK2 Lys1637
(g.100061A>G)
Not pathogenic
|
EX34
COR |
Mata IF, 2005
Tan EK, 2010
|
| |
|
84
|
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
|
| |
|
85
|
LRRK2 Ser1647Thr
(g.100089T>A)
Not pathogenic
|
EX34
COR |
Mata IF, 2005
Tan EK, 2010
|
| |
|
86
|
LRRK2 Tyr1699Cys
(g.101104A>T)
|
EX35
COR |
Paisán-Ruíz C, 2004
Zimprich A, 2004
Khan NL, 2005
|
| |
|
87
|
LRRK2 Arg1725Gln
(g.102028G>A)
Pathogenic nature unclear
|
EX36
COR |
Shojaee S, 2009
|
| |
|
88
|
LRRK2 Arg1728His
(g.102037G>A)
Pathogenic nature unclear
|
EX36
COR |
Paisán-Ruíz C, 2008
|
| |
|
89
|
LRRK2 Arg1728Leu
(g.102037G>T)
Pathogenic nature unclear
|
EX36
COR |
Paisán-Ruíz C, 2008
|
| |
|
90
|
LRRK2 Leu1795Phe
(g.102376G>T)
Pathogenic nature unclear
|
EX37
COR |
Nichols WC, 2007
|
| |
|
91
|
LRRK2 Gly1819
(g.102448T>C)
Not pathogenic
|
EX37
COR |
Mata IF, 2005
Tan EK, 2010
|
| |
|
92
|
LRRK2 Gln1823Lys
(g.102458C>A)
Pathogenic nature unclear
|
EX37
COR |
Shojaee S, 2009
|
| |
|
93
|
LRRK2 IVS37-9A>G
(g.103141A>G)
Pathogenic nature unclear
|
IVS37
|
Di Fonzo A, 2006
Grimes DA, 2007
Paisán-Ruíz C, 2008
|
| |
|
94
|
LRRK2 Met1869Val
(g.103245A>G)
Pathogenic nature unclear
|
EX38
COR |
Di Fonzo A, 2006
Paisán-Ruíz C, 2008
|
| |
|
95
|
LRRK2 Met1869Thr
(g.103246T>C)
Pathogenic nature unclear
|
EX38
COR |
Farrer M, 2005
Mata IF, 2005
|
| |
|
96
|
LRRK2 Leu1870Phe
(g.103250G>T)
Not pathogenic
|
EX38
COR |
Paisán-Ruíz C, 2008
|
| |
|
97
|
LRRK2 Glu1874Stop
(g.103260G>T)
Pathogenic nature unclear
|
EX38
COR |
Di Fonzo A, 2006
|
| |
|
98
|
LRRK2 IVS38+7C>T
(g.103303C>T)
Pathogenic nature unclear
|
IVS38
|
Paisán-Ruíz C, 2008
|
| |
|
99
|
LRRK2 Arg1941His
(g.115021G>A)
Pathogenic nature unclear
|
EX40
Kinase |
Khan NL, 2005
|
| |
|
100
|
LRRK2 Leu2005
(g.120348C>T)
Not pathogenic
|
EX41
Kinase |
Orr-Urtreger A, 2007
|
| |
|
101
|
LRRK2 Tyr2006His
(g.120351T>C)
Pathogenic nature unclear
|
EX41
Kinase |
Lesage S, 2007
|
| |
|
102
|
LRRK2 Ile2012Thr
(g.120370T>C)
Pathogenic nature unclear
|
EX41
Kinase |
Tomiyama H, 2006
Lu CS, 2006
Tan EK, 2010
|
| |
|
103
|
LRRK2 Tyr2018
(g.120389C>T)
Not pathogenic
|
EX41
Kinase |
Orr-Urtreger A, 2007
|
| |
|
104
|
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
|
| |
|
105
|
LRRK2 Ile2020Thr
(g.120394T>C)
|
EX41
Kinase |
Zimprich A, 2004
Funayama M, 2005
Berg D, 2005
Tomiyama H, 2006
Ohta E, 2007
|
| |
|
106
|
LRRK2 Thr2031Ser
(g.120426A>T)
Pathogenic nature unclear
|
EX41
Kinase |
Lesage S, 2007
|
| |
|
107
|
LRRK2 Asn2081Asp
(g.126874A>G)
Not pathogenic
|
EX42
Kinase |
Zimprich A, 2004
|
| |
|
108
|
LRRK2 Glu2108
(g.128442G>A)
Not pathogenic
|
EX43
Kinase |
Mata IF, 2005
Tan EK, 2010
|
| |
|
109
|
LRRK2 Cys2139Ser
(g.131562T>A)
Pathogenic nature unclear
|
EX44
L3 |
Abdalla-Carvalho CB, 2010
|
| |
|
110
|
LRRK2 Thr2141Met
(g.131569C>T)
Pathogenic nature unclear
|
EX44
L3 |
Paisán-Ruíz C, 2008
|
| |
|
111
|
LRRK2 Arg2143His
(g.131575G>A)
Pathogenic nature unclear
|
EX44
WD40 |
Paisán-Ruíz C, 2008
|
| |
|
112
|
LRRK2 Gly2170
(g.131657C>A)
Not pathogenic
|
EX44
WD40 |
Mata IF, 2005
Paisán-Ruíz C, 2008
|
| |
|
113
|
LRRK2 Asp2175His
(g.131670G>C)
Pathogenic nature unclear
|
EX44
WD40 |
Shojaee S, 2009
|
| |
|
114
|
LRRK2 Tyr2189Cys
(g.131713A>G)
Pathogenic nature unclear
|
EX44
WD40 |
Nuytemans K, 2008
Abdalla-Carvalho CB, 2010
|
| |
|
115
|
LRRK2 IVS46-14T>A
(g.139236T>A)
Pathogenic nature unclear
|
IVS46
|
Lesage S, 2009
|
| |
|
116
|
LRRK2 IVS46-8delT
(g.139242delT)
Pathogenic nature unclear
|
IVS46
|
Lesage S, 2009
|
| |
|
117
|
LRRK2 IVS47-9delT
(g.143383delT)
Not pathogenic
|
IVS47
|
Di Fonzo A, 2006
Shojaee S, 2009
|
| |
|
118
|
LRRK2 Thr2356Ile
(g.143430C>T)
Pathogenic nature unclear
|
EX48
WD40 |
Khan NL, 2005
Goldstein DS, 2007
Johnson J, 2007
|
| |
|
119
|
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
|
| |
|
120
|
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
|
| |
|
121
|
LRRK2 Val2390Met
(g.143531G>A)
Pathogenic nature unclear
|
EX48
WD40 |
Clarimón J, 2008
|
| |
|
122
|
LRRK2 Glu2395Lys
(g.144833G>A)
Not pathogenic
|
EX49
WD40 |
Paisán-Ruíz C, 2008
|
| |
|
123
|
LRRK2 Met2397Thr
(g.144840T>C)
Not pathogenic
|
EX49
WD40 |
Paisán-Ruíz C, 2005
Tan EK, 2010
|
| |
|
124
|
LRRK2 Gly2432
(g.144946C>G)
Not pathogenic
|
EX49
WD40 |
Paisán-Ruíz C, 2008
|
| |
|
125
|
LRRK2 Leu2439Ile
(g.144965C>A)
Pathogenic nature unclear
|
EX49
WD40 |
Shojaee S, 2009
|
| |
|
126
|
LRRK2 Leu2466His
(g.147002T>A)
Pathogenic nature unclear
|
EX50
WD40 |
Paisán-Ruíz C, 2008
|
| |
|
127
|
LRRK2 Glu2490fs
(g.147639delC)
Pathogenic nature unclear
|
EX51
WD40 |
Nuytemans K, 2009
|
| |
Selection: Gene = LRRK2
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