|
Mutations in
PARK2
|  |
|
|
|
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| |
|
1
|
PARK2 prom+ex1del (breakpoints not mapped)
()
|
Prom+EX1
whole protein |
Lesage S, 2007
Lohmann E, 2009
|
|  |
|
2
|
PARK2 ex1del (breakpoints not mapped)
()
|
EX1
UBL |
Hedrich K, 2002
Shyu WC, 2005
Aguiar P de C, 2008
Guo JF, 2008
Barsottini OG, 2009
|
| |
|
3
|
PARK2 ex1dup (breakpoints not mapped)
()
|
EX1
UBL |
Romito LM, 2005
Sun M, 2006
|
| |
|
4
|
PARK2 ex1-4del (breakpoints not mapped)
()
|
EX1-4
UBL |
Chung SJ, 2008
|
| |
|
5
|
PARK2 ex2del (breakpoints not mapped)
()
|
EX2
UBL |
Hedrich K, 2001
Hedrich K, 2002
Kann M, 2002
Periquet M, 2003
Poorkaj P, 2004
Wang T, 2004
Wu RM, 2005
Poorkaj P, 2005
Bertoli-Avella AM, 2005
Shyu WC, 2005
De Rosa A, 2006
Chaudhary S, 2006
Sun M, 2006
Chung EJ, 2006
Scarciolla O, 2007
Lesage S, 2008
Bras J, 2008
Simon-Sanchez J, 2008
Wang Y, 2008
Choi JM, 2008
Guo JF, 2008
Wickremaratchi MM, 2009
Pankratz N, 2009
Guo JF, 2010
|
| |
|
6
|
PARK2 ex2del (breakpoints not mapped)
()
|
EX2
UBL |
Lesage S, 2008
Marras C, 2008
|
| |
|
7
|
PARK2 ex2dup (breakpoints not mapped)
()
|
EX2
UBL |
Chaudhary S, 2006
Simon-Sanchez J, 2008
Sironi F, 2008
Nuytemans K, 2009
Brüggemann N, 2009
Koziorowski D, 2009
Pankratz N, 2009
Keyser RJ, 2009
Guo JF, 2010
|
| |
|
8
|
PARK2 ex2trip (breakpoints not mapped)
()
|
EX2
UBL |
Lücking CB, 2001
Kann M, 2002
|
| |
|
9
|
PARK2 ex2-3del (breakpoints not mapped)
()
|
EX2-3
UBL |
Foroud T, 2003
Wiley J, 2004
Wu RM, 2005
Bertoli-Avella AM, 2005
Shyu WC, 2005
De Rosa A, 2006
Scarciolla O, 2007
Lesage S, 2008
Wickremaratchi MM, 2009
Pankratz N, 2009
Guo JF, 2010
|
| |
|
10
|
PARK2 ex2-3del (breakpoints not mapped)
()
|
EX2-3
UBL |
Wu YR, 2009
|
| |
|
11
|
PARK2 ex2-3dup (breakpoints not mapped)
()
|
EX2-3
UBL |
Nichols WC, 2002
Periquet M, 2003
Nuytemans K, 2009
Keyser RJ, 2009
|
| |
|
12
|
PARK2 ex2-4del (breakpoints not mapped)
()
|
EX2-4
UBL |
Maruyama M, 2000
Nichols WC, 2002
Periquet M, 2003
De Rosa A, 2006
Hertz JM, 2006
Sun M, 2006
Shadrina MI, 2007
Amboni M, 2009
|
| |
|
13
|
PARK2 ex2-4dup (breakpoints not mapped)
()
|
EX2-4
UBL |
Foroud T, 2003
Periquet M, 2003
Poorkaj P, 2004
Lesage S, 2008
Simon-Sanchez J, 2008
Brüggemann N, 2009
Pankratz N, 2009
|
| |
|
14
|
PARK2 ex2-4trip (breakpoints not mapped)
()
|
EX2-4
UBL |
Mata IF, 2005
Pankratz N, 2009
|
| |
|
15
|
PARK2 ex2-5del (breakpoints not mapped)
()
|
EX2-5
UBL |
Kann M, 2002
Moro E, 2008
|
| |
|
16
|
PARK2 ex2-12dup (breakpoints not mapped)
()
Pathogenic nature unclear
|
EX2-12
UBL-ring1-IBR-ring2 |
Nuytemans K, 2009
|
| |
|
17
|
PARK2 ex3del (breakpoints not mapped)
()
|
EX3
UBL |
Lücking CB, 1998
Hattori N, 1998
Nisipeanu P, 1999
Tassin J, 2000
Kobayashi T,, 2000
Lu CS, 2001
van de Warrenburg BP, 2001
Hedrich K, 2001
Hedrich K, 2002
Hoenicka J, 2002
Nichols WC, 2002
Wu RM, 2002
Kobayashi T, 2003
Periquet M, 2003
Illarioshkin SN, 2003
Poorkaj P, 2004
Sasaki S, 2004
Wang T, 2004
Capecci M, 2004
Varrone A, 2004
Poorkaj P, 2005
Bertoli-Avella AM, 2005
Shyu WC, 2005
De Rosa A, 2006
Sun M, 2006
Chung EJ, 2006
Shadrina MI, 2007
Scarciolla O, 2007
Lesage S, 2008
Chung SJ, 2008
Moro E, 2008
Aguiar P de C, 2008
Guo JF, 2008
Sironi F, 2008
Lohmann E, 2009
Macedo MG, 2009
Barsottini OG, 2009
Brüggemann N, 2009
Keyser RJ, 2009
Guo JF, 2010
|
| |
|
18
|
PARK2 ex3del (breakpoints not mapped)
()
|
EX3
UBL |
Abbruzzese G, 2004
Lesage S, 2008
Deng H, 2008
|
| |
|
19
|
PARK2 ex3dup (breakpoints not mapped)
()
|
EX3
UBL |
Bonifati V, 2001
Kann M, 2002
Nichols WC, 2002
Foroud T, 2003
Periquet M, 2003
Wiley J, 2004
Lesage S, 2008
Sironi F, 2008
Lohmann E, 2009
Nuytemans K, 2009
Guo JF, 2010
|
| |
|
20
|
PARK2 ex3-4del (breakpoints not mapped)
()
|
EX3-4
UBL |
Hattori N, 1998
Kobayashi T,, 2000
Ujike H, 2001
Lücking CB, 2001
Hedrich K, 2002
Kann M, 2002
Nichols WC, 2002
Foroud T, 2003
Rawal N, 2003
Periquet M, 2003
Wiley J, 2004
Bertoli-Avella AM, 2005
Shyu WC, 2005
De Rosa A, 2006
Clark LN, 2006
Biswas A, 2006
Shadrina MI, 2007
Lesage S, 2008
Simon-Sanchez J, 2008
Moro E, 2008
Wang Y, 2008
Guo JF, 2008
Sironi F, 2008
Lohmann E, 2009
Macedo MG, 2009
Bardien S, 2009
Pankratz N, 2009
Keyser RJ, 2009
Sammler EM, 2009
|
| |
|
21
|
PARK2 ex3-4del (breakpoints not mapped)
()
|
Ex3-4
UBL |
Kuroda Y, 2001
Abbruzzese G, 2004
Kunishige M, 2004
Nakaso K, 2006
Lesage S, 2008
Deng H, 2008
|
| |
|
22
|
PARK2 ex3-4dup (breakpoints not mapped)
()
|
EX3-4
UBL |
Periquet M, 2003
Lesage S, 2008
Nuytemans K, 2009
|
| |
|
23
|
PARK2 ex3-5del (breakpoints not mapped)
()
|
EX3-5
UBL |
Kobayashi T,, 2000
Rawal N, 2003
Periquet M, 2003
Shadrina MI, 2007
Lesage S, 2008
Sironi F, 2008
|
| |
|
24
|
PARK2 ex3-5del (breakpoints not mapped)
()
|
EX3-5
UBL |
Nakaso K, 2006
|
| |
|
25
|
PARK2 ex3-6del (breakpoints not mapped)
()
|
EX3-6
UBL-ring1 |
Rawal N, 2003
Lesage S, 2008
Lohmann E, 2009
Nuytemans K, 2009
Pankratz N, 2009
|
| |
|
26
|
PARK2 ex3-6del (breakpoints not mapped)
()
|
EX3-6
UBL-ring1 |
Deng H, 2007
|
| |
|
27
|
PARK2 ex3-7del (breakpoints not mapped)
()
|
EX3-7
UBL-ring1 |
Kitada T, 1998
Kitada T, 1999
Shadrina MI, 2007
|
| |
|
28
|
PARK2 ex3-9del (breakpoints not mapped)
()
|
EX3-9
UBL-ring1-IBR |
Bonifati V, 2001
|
| |
|
29
|
PARK2 ex4del
(g.0484957_0641130del)
|
EX4
L1 |
Clarimon J, 2005
|
| |
|
30
|
PARK2 partial ex4del
(g.0529909_0531657del1749)
|
EX4
L1 |
Clarimon J, 2005
Khan NL, 2005
|
| |
|
31
|
PARK2 ex4del (breakpoints not mapped)
()
|
EX4
L1 |
Kitada T, 1998
Hattori N, 1998
Abbas N, 1999
Maruyama M, 2000
Hayashi S, 2000
Ujike H, 2001
Jeon BS, 2001
Hedrich K, 2002
Kann M, 2002
Wu RM, 2002
Foroud T, 2003
Rawal N, 2003
Kim JS, 2003
Periquet M, 2003
Dogu O, 2004
Wang T, 2004
Sun M, 2006
Shadrina MI, 2007
Lesage S, 2008
Choi JM, 2008
Guo JF, 2008
Myhre R, 2008
Lohmann E, 2009
Lee MJ, 2009
Macedo MG, 2009
Bardien S, 2009
Pankratz N, 2009
Keyser RJ, 2009
Guo JF, 2010
|
| |
|
32
|
PARK2 ex4del (breakpoints not mapped)
()
|
EX4
L1 |
Kitada T, 1998
Tan EK, 2005
|
| |
|
33
|
PARK2 ex4dup (breakpoints not mapped)
()
|
EX4
L1 |
Hedrich K, 2001
Chaudhary S, 2006
Simon-Sanchez J, 2008
Pankratz N, 2009
|
| |
|
34
|
PARK2 ex4-5del (breakpoints not mapped)
()
|
EX4-5
L1 |
Kann M, 2002
Illarioshkin SN, 2003
Wiley J, 2004
Pankratz N, 2009
|
| |
|
35
|
PARK2 ex4-6del (breakpoints not mapped)
()
|
EX4-6
ring1 |
Nichols WC, 2002
Foroud T, 2003
Clarimon J, 2005
Pankratz N, 2009
|
| |
|
36
|
PARK2 ex4-7del (breakpoints not mapped)
()
|
EX4-7
ring1 |
Rawal N, 2003
Lesage S, 2008
Koziorowski D, 2009
|
| |
|
37
|
PARK2 ex5del
(g.0574670_0702743del12813)
|
EX5
L1 |
Bayrakli F, 2007
|
| |
|
38
|
PARK2 ex5del (breakpoints not mapped)
()
|
EX5
L1 |
Hattori N, 1998
Hedrich K, 2001
Bonifati V, 2001
Hoenicka J, 2002
Kobayashi T, 2003
Scherfler C, 2004
Hedrich K, 2004
Bertoli-Avella AM, 2005
Shyu WC, 2005
Clark LN, 2006
Wang Y, 2008
Lohmann E, 2009
Lee MJ, 2009
Pankratz N, 2009
Guo JF, 2010
|
| |
|
39
|
PARK2 ex5del (breakpoints not mapped)
()
|
EX5
L1 |
Deng H, 2007
Wu YR, 2009
|
| |
|
40
|
PARK2 ex5dup (breakpoints not mapped)
()
|
EX5
L1 |
Hedrich K, 2002
Nichols WC, 2002
Foroud T, 2003
Shadrina MI, 2007
Bras J, 2008
Moro E, 2008
Camargos ST, 2009
|
| |
|
41
|
PARK2 ex5-6del (breakpoints not mapped)
()
|
EX5-6
ring1 |
Muñoz E, 2002
Scherfler C, 2004
Bertoli-Avella AM, 2005
Hertz JM, 2006
Scarciolla O, 2007
Sironi F, 2008
Pankratz N, 2009
|
| |
|
42
|
PARK2 ex5-6del (breakpoints not mapped)
()
|
EX5-6
ring1 |
Deng H, 2006
|
| |
|
43
|
PARK2 ex5-7del (breakpoints not mapped)
()
|
EX5-7
ring1 |
Leroy E, 1998
|
| |
|
44
|
PARK2 ex5-8dup (breakpoints not mapped)
()
|
EX5-8
ring1 |
Hertz JM, 2006
Pankratz N, 2009
|
| |
|
45
|
PARK2 ex5-9dup (breakpoints not mapped)
()
|
EX5-9
ring1-IBR |
Brooks J, 2009
|
| |
|
46
|
PARK2 ex5-12del (breakpoints not mapped)
()
|
EX5-12
ring1-IBR-ring2 |
Moro E, 2008
|
| |
|
47
|
PARK2 ex6del (breakpoints not mapped)
()
|
EX6
ring1 |
Nichols WC, 2002
Foroud T, 2003
Rawal N, 2003
Periquet M, 2003
Bertoli-Avella AM, 2005
Chaudhary S, 2006
Simon-Sanchez J, 2008
Moro E, 2008
Chan DK, 2008
Sironi F, 2008
Nuytemans K, 2009
Pankratz N, 2009
Guo JF, 2010
|
| |
|
48
|
PARK2 ex6dup (breakpoints not mapped)
()
|
EX6
ring1 |
Periquet M, 2003
Varrone A, 2004
Chaudhary S, 2006
Lohmann E, 2009
Lee MJ, 2009
Nuytemans K, 2009
|
| |
|
49
|
PARK2 ex6-7del (breakpoints not mapped)
()
|
EX6-7
ring1 |
Maruyama M, 2000
Scherfler C, 2004
Bertoli-Avella AM, 2005
Sironi F, 2008
|
| |
|
50
|
PARK2 ex6-8dup (breakpoints not mapped)
()
|
EX6-8
ring1 |
Sun M, 2006
|
| |
|
51
|
PARK2 ex7del (breakpoints not mapped)
()
|
EX7
ring1 |
Klein C, 2000
Hedrich K, 2001
Foroud T, 2003
Illarioshkin SN, 2003
Djarmati A, 2004
Shyu WC, 2005
Inzelberg R, 2005
Adel S, 2006
Hertz JM, 2006
Chaudhary S, 2006
Chung EJ, 2006
Chan DK, 2008
Brüggemann N, 2009
|
| |
|
52
|
PARK2 ex7dup (breakpoints not mapped)
()
|
EX7
ring1 |
Pramstaller PP, 2002
Kann M, 2002
Nichols WC, 2002
Foroud T, 2003
Simon-Sanchez J, 2008
Macedo MG, 2009
|
| |
|
53
|
PARK2 ex7-8del (breakpoints not mapped)
()
|
EX7-8
ring1 |
Sun M, 2006
|
| |
|
54
|
PARK2 ex7-9del (breakpoints not mapped)
()
|
EX7-9
ring1-IBR |
Moro E, 2008
|
| |
|
55
|
PARK2 ex8del (breakpoints not mapped)
()
|
EX8
ring1 |
Nichols WC, 2002
Foroud T, 2003
Scherfler C, 2004
Poorkaj P, 2004
Bertoli-Avella AM, 2005
Shyu WC, 2005
Chaudhary S, 2006
|
| |
|
56
|
PARK2 ex8dup (breakpoints not mapped)
()
|
EX8
ring1 |
Nichols WC, 2002
Foroud T, 2003
Bras J, 2008
Moro E, 2008
|
| |
|
57
|
PARK2 ex8-9del (breakpoints not mapped)
()
|
EX8-9
ring1-IBR |
Lücking CB, 1998
Tassin J, 2000
Hoenicka J, 2002
Nichols WC, 2002
Foroud T, 2003
Madegowda RH, 2005
Lohmann E, 2009
Pankratz N, 2009
|
| |
|
58
|
PARK2 ex8-10del (breakpoints not mapped)
()
|
EX8-10
ring1-IBR |
Bertoli-Avella AM, 2005
|
| |
|
59
|
PARK2 ex8-11del (breakpoints not mapped)
()
|
EX8-11
ring1-IBR-ring2 |
Bras J, 2008
|
| |
|
60
|
PARK2 ex9del (breakpoints not mapped)
()
|
EX9
IBR |
Keyser RJ, 2009
|
| |
|
61
|
PARK2 ex9dup (breakpoints not mapped)
()
|
EX9
IBR |
Kann M, 2002
Poorkaj P, 2004
Sun M, 2006
Bras J, 2008
|
| |
|
62
|
PARK2 ex10del (breakpoints not mapped)
()
|
EX10
IBR |
Foroud T, 2003
Periquet M, 2003
|
| |
|
63
|
PARK2 ex10dup (breakpoints not mapped)
()
|
EX10
IBR |
Foroud T, 2003
|
| |
|
64
|
PARK2 ex10-12del (breakpoints not mapped)
()
|
EX10-12
IBR-ring2 |
Shyu WC, 2005
|
| |
|
65
|
PARK2 ex10-12dup (breakpoints not mapped)
()
|
EX10-12
IBR-ring2 |
Macedo MG, 2009
|
| |
|
66
|
PARK2 ex11del (breakpoints not mapped)
()
|
EX11
ring2 |
Hertz JM, 2006
Aguiar P de C, 2008
Barsottini OG, 2009
Guo JF, 2010
|
| |
|
67
|
PARK2 ex11dup (breakpoints not mapped)
()
|
EX11
ring2 |
Hertz JM, 2006
Chung EJ, 2006
|
| |
|
68
|
PARK2 ex12dup (breakpoints not mapped)
()
|
EX12
ring2 |
Sun M, 2006
|
| |
|
69
|
PARK2 c.-53C>T
(g.0005082C>T)
Pathogenic nature unclear
|
5'UTR
|
Kay DM, 2007
|
| |
|
70
|
PARK2 c.-44C>A
(g.0005091C>A)
Pathogenic nature unclear
|
5'UTR
|
Kay DM, 2007
|
| |
|
71
|
PARK2 c.-39G>T
(g.0005096G>T)
|
5'UTR
|
Brüggemann N, 2009
|
| |
|
72
|
PARK2 c.-21G>T
(g.0005114G>T)
Pathogenic nature unclear
|
5'UTR
|
Hedrich K, 2002
Clark LN, 2006
Wang Y, 2008
Brüggemann N, 2009
|
| |
|
73
|
PARK2 c.-6G>C
(g.0005129G>C)
Pathogenic nature unclear
|
5'UTR
|
Varrone A, 2004
|
| |
|
74
|
PARK2 Met1Leu
(g.0005135A>T)
|
EX1
UBL |
Rawal N, 2003
|
| |
|
75
|
PARK2 IVS1+1G>A
(g.0005142G>A)
|
IVS1
|
Illarioshkin SN, 2003
Chien HF, 2006
|
| |
|
76
|
PARK2 Ser10Asn
(g.0289351G>A)
Pathogenic nature unclear
|
EX2
UBL |
Nuytemans K, 2009
|
| |
|
77
|
PARK2 Gly12Arg
(g.0289356G>C)
Pathogenic nature unclear
|
EX2
UBL |
Mellick GD, 2009
|
| |
|
78
|
PARK2 Val15Met
(g.0289365G>A)
Pathogenic nature unclear
|
EX2
UBL |
Muñoz E, 2002
|
| |
|
79
|
PARK2 Glu16
(g.0289370G>A)
Not pathogenic
|
EX2
UBL |
Okubadejo N, 2008
|
| |
|
80
|
PARK2 Val17
(g.0289373C>zzzzz)
Not pathogenic
|
EX3
UBL |
Myhre R, 2008
|
| |
|
81
|
PARK2 Asp18Asn
(g.0289374G>A)
Pathogenic nature unclear
|
EX2
UBL |
Wang Y, 2008
|
| |
|
82
|
PARK2 Ala31Asp
(g.0289414C>A)
|
EX2
UBL |
Chaudhary S, 2006
|
| |
|
83
|
PARK2 Arg33Stop
(g.0289419C>T)
|
EX2
UBL |
Maruyama M, 2000
|
| |
|
84
|
PARK2 Arg33Gln
(g.0289420G>A)
|
EX2
UBL |
Hertz JM, 2006
Macedo MG, 2009
Pankratz N, 2009
|
| |
|
85
|
PARK2 Gln34fs
(g.0289423delA)
|
EX2
UBL |
Nisipeanu P, 2001
Inzelberg R, 2003
Moro E, 2008
|
| |
|
86
|
PARK2 Gln34fs
(g.0289423_0289424delAG)
|
EX2
UBL |
Abbas N, 1999
Hedrich K, 2002
Foroud T, 2003
Gouider-Khouja N, 2003
Illarioshkin SN, 2003
Scherfler C, 2004
Romito LM, 2005
Lesage S, 2008
Guo JF, 2008
Lohmann E, 2009
Brooks J, 2009
Brüggemann N, 2009
Koziorowski D, 2009
Pankratz N, 2009
Guo JF, 2010
|
| |
|
87
|
PARK2 Gln34Arg
(g.0289423A>G)
Pathogenic nature unclear
|
EX2
UBL |
Chaudhary S, 2006
Biswas A, 2006
Myhre R, 2008
Bardien S, 2009
|
| |
|
88
|
PARK2 Pro37Leu
(g.0289432C>T)
Pathogenic nature unclear
|
EX2
UBL |
Kann M, 2002
Nuytemans K, 2009
|
| |
|
89
|
PARK2 Pro37
(g.0289433G>A)
Not pathogenic
|
EX2
UBL |
Okubadejo N, 2008
|
| |
|
90
|
PARK2 Gln40Stop
(g.0289440C>T)
|
EX2
UBL |
Choi JM, 2008
|
| |
|
91
|
PARK2 Arg42Cys
(g.0289446C>T)
Pathogenic nature unclear
|
EX2
UBL |
Chaudhary S, 2006
Biswas A, 2006
Brooks JA, 2009
|
| |
|
92
|
PARK2 Arg42His
(g.0289447G>A)
|
EX2
UBL |
Madegowda RH, 2005
Biswas A, 2006
|
| |
|
93
|
PARK2 Arg42Pro
(g.0289447G>C)
|
EX2
UBL |
Terreni L, 2001
Hedrich K, 2002
Bertoli-Avella AM, 2005
Clark LN, 2006
Pellecchia MT, 2007
Wang Y, 2008
Sironi F, 2008
Macedo MG, 2009
|
| |
|
94
|
PARK2 Ala46Thr
(g.0289458G>A)
Pathogenic nature unclear
|
EX2
UBL |
Okubadejo N, 2008
|
| |
|
95
|
PARK2 Asn52fs
(g.0289477delA)
|
EX2
UBL |
Abbas N, 1999
Hedrich K, 2002
Hoenicka J, 2002
Nichols WC, 2002
Muñoz E, 2002
Rawal N, 2003
Hedrich K, 2004
Sun M, 2006
Dächsel JC, 2006
Lesage S, 2008
Bras J, 2008
Lohmann E, 2009
Nuytemans K, 2009
Camargos ST, 2009
Brooks J, 2009
Pankratz N, 2009
|
| |
|
96
|
PARK2 Asp53Stop
(g.0289478_0289479insT)
|
EX2
UBL |
Aguiar P de C, 2008
Barsottini OG, 2009
|
| |
|
97
|
PARK2 Trp54Arg
(g.0289482T>A)
Pathogenic nature unclear
|
EX2
UBL |
Camargos ST, 2009
|
| |
|
98
|
PARK2 Val56Glu
(g.0289489T>A)
|
EX2
UBL |
Hoenicka J, 2002
|
| |
|
99
|
PARK2 IVS2+10C>T
(g.0289503C>T)
Pathogenic nature unclear
|
IVS2
|
Bardien S, 2009
|
| |
|
100
|
PARK2 Trp74fs
(g.0470086_0470087insGT)
|
EX3
UBL |
Abbas N, 1999
Pineda-Trujillo N, 2001
|
| |
|
101
|
PARK2 Glu79Stop
(g.0470101G>T)
|
EX3
L1 |
Foroud T, 2003
Pankratz N, 2009
|
| |
|
102
|
PARK2 Ala82Glu
(g.0470111C>A)
Pathogenic nature unclear
|
EX3
L1 |
Hedrich K, 2001
Varrone A, 2004
Kay DM, 2007
Lesage S, 2008
Håkansson A, 2008
Sironi F, 2008
Nuytemans K, 2009
Brooks J, 2009
Pankratz N, 2009
|
| |
|
103
|
PARK2 Thr83Ala
(g.0470113A>G)
Pathogenic nature unclear
|
EX3
L1 |
Pankratz N, 2009
|
| |
|
104
|
PARK2 Gln100His
(g.0470166G>C)
Not pathogenic
|
EX3
L1 |
Chen R, 2003
|
| |
|
105
|
PARK2 Arg104Trp
(g.0470176C>T)
Pathogenic nature unclear
|
EX3
L1 |
Varrone A, 2004
Chaudhary S, 2006
|
| |
|
106
|
PARK2 Pro113fs / ex3 Δ40bp
(g.0470203_0470242del40)
|
EX3
L1 |
Farrer M, 2001
Hedrich K, 2002
Nichols WC, 2002
Foroud T, 2003
Chen R, 2003
Scherfler C, 2004
Wiley J, 2004
Poorkaj P, 2004
Hedrich K, 2004
Poorkaj P, 2005
Clark LN, 2006
Sun M, 2006
Wang Y, 2008
Brooks J, 2009
Pankratz N, 2009
Sammler EM, 2009
|
| |
|
107
|
PARK2 His124
(g.0470238C>T)
Not pathogenic
|
EX3
L1 |
Chen R, 2003
|
| |
|
108
|
PARK2 Pro133del
(g.0470263_0470265delCCA)
|
EX3
L1 |
Hedrich K, 2004
|
| |
|
109
|
PARK2 Tyr134Cys
(g.0531566A>G)
Pathogenic nature unclear
|
EX3
L1 |
Biswas A, 2006
|
| |
|
110
|
PARK2 Ser145Asn
(g.0531572G>A)
Pathogenic nature unclear
|
EX4
L1 |
Varrone A, 2004
Romito LM, 2005
|
| |
|
111
|
PARK2 Pro153Arg
(g.0531596C>G)
Pathogenic nature unclear
|
EX4
L1 |
Wang Y, 2008
Okubadejo N, 2008
Camargos ST, 2009
|
| |
|
112
|
PARK2 Lys161Asn
(g.0531621A>T)
|
EX4
L1 |
Abbas N, 1999
|
| |
|
113
|
PARK2 Cys166Tyr
(g.0531635G>A)
Pathogenic nature unclear
|
EX4
L1 |
Brooks J, 2009
|
| |
|
114
|
PARK2 Ser167Asn
(g.0531638G>A)
Not pathogenic
|
EX4
L1 |
Hattori N, 1998
Wang M, 1999
Satoh J, 1999
Hu CJ, 2000
Mellick GD, 2001
Oliveri RL, 2001
Mata IF, 2002
Eerola J, 2002
Foroud T, 2003
Oliveira SA, 2003
Lücking CB, 2003
Peng R, 2003
Sinha R, 2005
Li X, 2005
Clark LN, 2006
Kay DM, 2007
Ghione I, 2007
Biswas A, 2007
Wu YR, 2009
Koziorowski D, 2009
Martínez HR, 2010
|
| |
|
115
|
PARK2 Gln171Stop
(g.0531649C>T)
|
EX4
L1 |
Brooks J, 2009
|
| |
|
116
|
PARK2 Thr173Met
(g.0531656C>T)
Pathogenic nature unclear
|
EX4
L1 |
Kay DM, 2007
Pankratz N, 2009
|
| |
|
117
|
PARK2 Leu174
(g.0531660C>T)
Not pathogenic
|
EX4
L1 |
Kay DM, 2007
Brooks J, 2009
|
| |
|
118
|
PARK2 Thr177
(g.0531669C>A)
Not pathogenic
|
EX4
L1 |
Kay DM, 2007
|
| |
|
119
|
PARK2 IVS4+10T>C
(g.0531682T>C)
Pathogenic nature unclear
|
IVS4
|
Chan DK, 2008
|
| |
|
120
|
PARK2 IVS4-9T>A
(g.0678620T>A)
Pathogenic nature unclear
|
IVS4
|
Pankratz N, 2009
|
| |
|
121
|
PARK2 Gly179fs
(g.0678630delG)
|
EX5
L1 |
Hattori N, 1998
|
| |
|
122
|
PARK2 Met192Leu
(g.0678668A>C)
|
EX5
L1 |
Hedrich K, 2002
Clark LN, 2006
Wang Y, 2008
Okubadejo N, 2008
Sironi F, 2008
Bardien S, 2009
Nuytemans K, 2009
|
| |
|
123
|
PARK2 Met192Val
(g.0678668A>G)
|
EX5
L1 |
Foroud T, 2003
Dächsel JC, 2006
Pankratz N, 2009
|
| |
|
124
|
PARK2 His200Gln
(g.0678694C>G)
Pathogenic nature unclear
|
EX5
L1 |
Bardien S, 2009
|
| |
|
125
|
PARK2 IVS5+2T>A
(g.0678714T>A)
Pathogenic nature unclear
|
IVS5
|
Scherfler C, 2004
|
| |
|
126
|
PARK2 Lys211Asn
(g.0759400A>T)
|
EX6
L1 |
van de Warrenburg BP, 2001
Kann M, 2002
Nichols WC, 2002
Foroud T, 2003
Klein C, 2005
Hertz JM, 2006
Aguiar P de C, 2008
Barsottini OG, 2009
Pankratz N, 2009
|
| |
|
127
|
PARK2 Cys212fs
(g.0759401delT)
Pathogenic nature unclear
|
EX6
L1 |
Sironi F, 2008
|
| |
|
128
|
PARK2 Cys212Gly
(g.0759401T>G)
|
EX6
L1 |
Shyu WC, 2005
|
| |
|
129
|
PARK2 Cys212Tyr
(g.0759402G>A)
|
EX6
L1 |
Pineda-Trujillo N, 2001
Hoenicka J, 2002
|
| |
|
130
|
PARK2 His215Gln
(g.0759412C>A)
Pathogenic nature unclear
|
EX6
L1 |
Pigullo S, 2004
|
| |
|
131
|
PARK2 Ala230Thr
(g.0759455G>A)
Pathogenic nature unclear
|
EX6
L1 |
Sironi F, 2008
|
| |
|
132
|
PARK2 Arg234Gln
(g.0759468G>A)
|
EX6
L1 |
Hertz JM, 2006
Brooks J, 2009
Brooks JA, 2009
|
| |
|
133
|
PARK2 Cys238fs
(g.0759479delT)
|
EX6
ring1 |
Guo JF, 2010
|
| |
|
134
|
PARK2 Cys238Trp
(g.0759481C>G)
Pathogenic nature unclear
|
EX6
ring1 |
Sironi F, 2008
|
| |
|
135
|
PARK2 Cys238
(g.0759481C>T)
Not pathogenic
|
EX6
ring1 |
Bardien S, 2009
|
| |
|
136
|
PARK2 Thr240Arg
(g.0759486C>G)
|
EX6
ring1 |
Hattori N, 1998
|
| |
|
137
|
PARK2 Thr240Met
(g.0759486C>T)
|
EX6
ring1 |
Foroud T, 2003
Periquet M, 2003
Madegowda RH, 2005
Schlitter AM, 2006
Deng H, 2006
Bras J, 2008
Sironi F, 2008
Amboni M, 2009
Camargos ST, 2009
Pankratz N, 2009
|
| |
|
138
|
PARK2 Asp243Asn
(g.0759494G>A)
Pathogenic nature unclear
|
EX6
ring1 |
Romito LM, 2005
Brooks J, 2009
|
| |
|
139
|
PARK2 Val244Ile
(g.0759497G>A)
Pathogenic nature unclear
|
EX6
ring1 |
Kay DM, 2007
|
| |
|
140
|
PARK2 Cys253Tyr
(g.0946918GA)
Pathogenic nature unclear
|
EX7
ring1 |
Sun M, 2006
Wang Y, 2008
Sironi F, 2008
|
| |
|
141
|
PARK2 Cys253Phe
(g.0946918G>T)
Pathogenic nature unclear
|
EX7
ring1 |
Guo JF, 2008
|
| |
|
142
|
PARK2 Ser255
(g.0946925A>T)
Not pathogenic
|
EX7
ring1 |
Kay DM, 2007
|
| |
|
143
|
PARK2 Arg256Cys
(g.0946926C>T)
Pathogenic nature unclear
|
EX7
ring1 |
Abbas N, 1999
Hedrich K, 2002
Periquet M, 2003
Shyu WC, 2005
Schlitter AM, 2006
Lesage S, 2008
Moro E, 2008
Nuytemans K, 2009
Pankratz N, 2009
|
| |
|
144
|
PARK2 Val258Met
(g.0946932G>A)
|
EX7
ring1 |
Shyu WC, 2005
|
| |
|
145
|
PARK2 Leu261
(g.0946943A>G)
Not pathogenic
|
EX7
ring1 |
Hedrich K, 2002
Clark LN, 2006
Okubadejo N, 2008
Brüggemann N, 2009
|
| |
|
146
|
PARK2 His265Arg
(g.0946954A>G)
Pathogenic nature unclear
|
EX7
ring1 |
Nuytemans K, 2009
|
| |
|
147
|
PARK2 Tyr267His
(g.0946959T>C)
Pathogenic nature unclear
|
EX7
ring1 |
Lee MJ, 2009
|
| |
|
148
|
PARK2 Cys268Stop
(g.0946964T>A)
|
EX7
ring1 |
Scherfler C, 2004
|
| |
|
149
|
PARK2 Arg271Ser
(g.0946973A>T)
Not pathogenic
|
EX7
ring1 |
Chen R, 2003
|
| |
|
150
|
PARK2 Leu272Ile
(g.0946974C>A)
Not pathogenic
|
EX7
ring1 |
Li X, 2005
|
| |
|
151
|
PARK2 Leu272
(g.0946976C>T)
Not pathogenic
|
EX7
ring1 |
Chaudhary S, 2006
|
| |
|
152
|
PARK2 Asn273Ser
(g.0946978A>G)
Pathogenic nature unclear
|
EX7
ring1 |
Lesage S, 2008
Lesage S, 2008
Nuytemans K, 2009
|
| |
|
153
|
PARK2 Arg275Trp
(g.0946983C>T)
Pathogenic nature unclear
|
EX7
ring1 |
Abbas N, 1999
Pramstaller PP, 2002
Hedrich K, 2002
Kann M, 2002
Nichols WC, 2002
Foroud T, 2003
Rawal N, 2003
Periquet M, 2003
Scherfler C, 2004
Wiley J, 2004
Hedrich K, 2004
Arias Vásquez A, 2004
Klein C, 2005
Sinha R, 2005
Clark LN, 2006
Sun M, 2006
Lesage S, 2008
Wang Y, 2008
Sironi F, 2008
Lohmann E, 2009
Macedo MG, 2009
Nuytemans K, 2009
Brooks J, 2009
Brüggemann N, 2009
Pankratz N, 2009
|
| |
|
154
|
PARK2 His279
(g.0946997C>T)
Not pathogenic
|
EX7
ring1 |
Pigullo S, 2004
Macedo MG, 2009
|
| |
|
155
|
PARK2 Asp280Asn
(g.0946998G>A)
|
EX7
ring1 |
Scherfler C, 2004
Wang Y, 2008
Bardien S, 2009
|
| |
|
156
|
PARK2 Leu283Pro
(g.0947008T>C)
|
EX7
ring1 |
Macedo MG, 2009
|
| |
|
157
|
PARK2 Gly284Arg
(g.0947010G>C)
Pathogenic nature unclear
|
EX7
ring1 |
Wang T, 2004
Wu RM, 2005
|
| |
|
158
|
PARK2 Cys289Gly
(g.0947025T>G)
|
EX7
ring1 |
Lesage S, 2008
|
| |
|
159
|
PARK2 Ala291fs
(g.0947031delG)
|
EX7
ring1 |
Muñoz E, 2000
Muñoz E, 2002
|
| |
|
160
|
PARK2 IVS7-3C>G
(g.1163384C>G)
Pathogenic nature unclear
|
IVS7
|
Nuytemans K, 2009
|
| |
|
161
|
PARK2 IVS7-1G>C
(g.1163386G>C)
Pathogenic nature unclear
|
IVS7
|
Rawal N, 2003
|
| |
|
162
|
PARK2 Ile298Leu
(g.1163407A>C)
Pathogenic nature unclear
|
EX8
L2 |
Wang Y, 2008
|
| |
|
163
|
PARK2 Ile298Ser
(g.1163408T>G)
Pathogenic nature unclear
|
EX8
L2 |
Lesage S, 2008
Lesage S, 2008
|
| |
|
164
|
PARK2 Leu307
(g.1163434C>T)
Not pathogenic
|
EX8
L2 |
Kay DM, 2007
Sironi F, 2008
Brüggemann N, 2009
|
| |
|
165
|
PARK2 Glu310Asp
(g.1163445G>C)
Pathogenic nature unclear
|
EX8
L2 |
Bardien S, 2009
Pankratz N, 2009
|
| |
|
166
|
PARK2 Gln311Stop
(g.1163446C>T)
|
EX8
L2 |
Hattori N, 1998
|
| |
|
167
|
PARK2 Gln311His
(g.1163448G>T)
|
EX8
L2 |
Shyu WC, 2005
|
| |
|
168
|
PARK2 IVS8-3C>T
(g.1183797C>T)
Pathogenic nature unclear
|
IVS8
|
Pigullo S, 2004
|
| |
|
169
|
PARK2 Gly319
(g.1183823T>C)
Not pathogenic
|
EX9
L2 |
Wang Y, 2008
Okubadejo N, 2008
|
| |
|
170
|
PARK2 Cys323fs
(g.1183834_1183839del6)
|
EX9
IBR |
Guo JF, 2008
|
| |
|
171
|
PARK2 Val324fs
(g.1183837delT)
|
EX9
IBR |
Klein C, 2000
Hedrich K, 2001
Brüggemann N, 2009
|
| |
|
172
|
PARK2 Gly328Glu
(g.1183849G>A)
|
EX9
IBR |
Lesage S, 2008
|
| |
|
173
|
PARK2 Arg334Cys
(g.1183866C>T)
|
EX9
IBR |
Scherfler C, 2004
Romito LM, 2005
Madegowda RH, 2005
Chaudhary S, 2006
Biswas A, 2006
Bardien S, 2009
Wu YR, 2009
|
| |
|
174
|
PARK2 Arg334His
(g.1183867G>A)
Pathogenic nature unclear
|
EX9
IBR |
Okubadejo N, 2008
|
| |
|
175
|
PARK2 Ala339Ser
(g.1183881G>T)
Not pathogenic
|
EX9
IBR |
Chen R, 2003
Madegowda RH, 2005
|
| |
|
176
|
PARK2 Ala339
(g.1183883G>A)
Not pathogenic
|
EX9
IBR |
Foroud T, 2003
Chaudhary S, 2006
|
| |
|
177
|
PARK2 Arg348fs
(g.1183907_1183908delGA)
|
EX9
IBR |
Moro E, 2008
|
| |
|
178
|
PARK2 Lys349fs
(g.1183912_1183913delAA)
|
EX9
IBR |
Hedrich K, 2001
|
| |
|
179
|
PARK2 Thr351Pro
(g.1183917A>C)
|
EX9
IBR |
Kann M, 2002
|
| |
|
180
|
PARK2 Gly359Asp
(g.1183942G>A)
|
EX9
IBR |
Madegowda RH, 2005
Chaudhary S, 2006
|
| |
|
181
|
PARK2 IVS9+1delG
(g.1183950delG)
Pathogenic nature unclear
|
IVS9
|
Pankratz N, 2009
|
| |
|
182
|
PARK2 IVS9+5G>T
(g.1183954G>T)
Pathogenic nature unclear
|
IVS9
|
Pankratz N, 2009
|
| |
|
183
|
PARK2 IVS9-56108G>A
(g.1289818G>A)
Pathogenic nature unclear
|
IVS9
IBR |
Wu YR, 2009
|
| |
|
184
|
PARK2 IVS9-1G>A
(g.1345925G>A)
Pathogenic nature unclear
|
IVS9
|
Nuytemans K, 2009
|
| |
|
185
|
PARK2 Arg366Trp
(g.1345938C>T)
|
EX10
IBR |
Wang M, 1999
Hu CJ, 2000
Oliveri RL, 2001
Eerola J, 2002
Sinha R, 2005
Li X, 2005
Inzelberg R, 2005
Martínez HR, 2010
|
| |
|
186
|
PARK2 Arg366Gln
(g.1345939G>A)
Pathogenic nature unclear
|
EX10
IBR |
Wang Y, 2008
|
| |
|
187
|
PARK2 Val380Leu
(g.1345980G>C)
Not pathogenic
|
EX10
L3 |
Abbas N, 1999
Wang M, 1999
Hu CJ, 2000
Eerola J, 2002
Oliveira SA, 2003
Lücking CB, 2003
Li X, 2005
Clark LN, 2006
Kay DM, 2007
Ghione I, 2007
Biswas A, 2007
Wu YR, 2009
Koziorowski D, 2009
Martínez HR, 2010
|
| |
|
188
|
PARK2 Arg392fs
(g.1372605delGA)
|
EX11
L3 |
Alvarez V, 2001
|
| |
|
189
|
PARK2 Asp394Asn
(g.1372610G>A)
Not pathogenic
|
EX11
L3 |
Abbas N, 1999
Oliveri RL, 2001
Mata IF, 2002
Oliveira SA, 2003
Lücking CB, 2003
Scherfler C, 2004
Sinha R, 2005
Li X, 2005
Clark LN, 2006
Kay DM, 2007
Ghione I, 2007
Bardien S, 2009
Koziorowski D, 2009
Martínez HR, 2010
|
| |
|
190
|
PARK2 Glu395Stop
(g.1372613G>T)
|
EX11
L3 |
Bras J, 2008
|
| |
|
191
|
PARK2 Arg396Gly
(g.1372616A>G)
Pathogenic nature unclear
|
EX11
L3 |
Wu RM, 2005
|
| |
|
192
|
PARK2 Ala398Thr
(g.1372622G>A)
|
EX11
L3 |
Periquet M, 2003
|
| |
|
193
|
PARK2 Arg402Cys
(g.1372634C>T)
Pathogenic nature unclear
|
EX11
L3 |
Poorkaj P, 2004
Varrone A, 2004
Bertoli-Avella AM, 2005
Schlitter AM, 2006
Chaudhary S, 2006
Sun M, 2006
Kay DM, 2007
Moro E, 2008
Sironi F, 2008
Macedo MG, 2009
Bardien S, 2009
Nuytemans K, 2009
Brooks J, 2009
Brüggemann N, 2009
Koziorowski D, 2009
|
| |
|
194
|
PARK2 Arg402
(g.1372636T>C)
Not pathogenic
|
EX11
L3 |
Bardien S, 2009
|
| |
|
195
|
PARK2 Glu409Stop
(g.1372655G>T)
|
EX11
L3 |
Sironi F, 2008
|
| |
|
196
|
PARK2 Thr415Asn
(g.1372674C>A)
|
EX11
L3 |
Abbas N, 1999
Bertoli-Avella AM, 2005
Brooks J, 2009
|
| |
|
197
|
PARK2 Cys418Arg
(g.1372682T>C)
Pathogenic nature unclear
|
EX11
ring2 |
Bertoli-Avella AM, 2005
|
| |
|
198
|
PARK2 Asn428fs
(g.1372691_1372692insA)
|
EX11
ring2 |
Rawal N, 2003
|
| |
|
199
|
PARK2 IVS11-3C>G
(g.1382589C>G)
|
IVS11
|
Bertoli-Avella AM, 2005
Aguiar P de C, 2008
Barsottini OG, 2009
|
| |
|
200
|
PARK2 Gly429Glu
(g.1382592G>A)
|
EX12
ring2 |
Brüggemann N, 2009
|
| |
|
201
|
PARK2 Gly430Asp
(g.1382595G>A)
|
EX12
ring2 |
Hedrich K, 2002
Scherfler C, 2004
Shyu WC, 2005
Sun M, 2006
Mellick GD, 2009
Pankratz N, 2009
|
| |
|
202
|
PARK2 Cys431Phe
(g.1382598G>C)
|
EX12
ring2 |
Maruyama M, 2000
Brooks J, 2009
|
| |
|
203
|
PARK2 Pro437Leu
(g.1382616C>T)
Pathogenic nature unclear
|
EX12
ring2 |
Hedrich K, 2002
Nichols WC, 2002
Foroud T, 2003
Rawal N, 2003
Djarmati A, 2004
Poorkaj P, 2004
Hertz JM, 2006
Sun M, 2006
Kay DM, 2007
Nuytemans K, 2009
Brooks J, 2009
Pankratz N, 2009
Brooks JA, 2009
|
| |
|
204
|
PARK2 Cys441Arg
(g.1382627T>C)
Pathogenic nature unclear
|
EX12
ring2 |
Shyu WC, 2005
Chan DK, 2008
Guo JF, 2008
Lohmann E, 2009
Lee MJ, 2009
|
| |
|
205
|
PARK2 Glu444Gln
(g.1382636G>C)
|
EX12
ring2 |
Madegowda RH, 2005
|
| |
|
206
|
PARK2 Trp445Stop
(g.1382641G>A)
Pathogenic nature unclear
|
EX12
C-term |
Rawal N, 2003
Infante J, 2009
|
| |
|
207
|
PARK2 Trp453Stop
(g.1382664G>A)
|
EX12
C-term |
Abbas N, 1999
|
| |
|
208
|
PARK2 Met458Leu
(g.1382678A>C)
Pathogenic nature unclear
|
EX12
C-term |
Brooks J, 2009
Brüggemann N, 2009
|
| |
|
209
|
PARK2 Asp460fs
(g.1382684_1382685insG)
|
EX12
C-term |
Chan DK, 2008
|
| |
|
210
|
PARK2 *16G>A
(g.1382720G>A)
Pathogenic nature unclear
|
3'UTR
|
Bardien S, 2009
|
| |
|
211
|
PARK2 *94A>G
(g.1382798A>G)
Pathogenic nature unclear
|
3'UTR
|
Sironi F, 2008
Bardien S, 2009
|
| |
|
212
|
PARK2 *94_95delinsGCGC
(g.1382798_1382799delins4)
Pathogenic nature unclear
|
3'UTR
|
Sironi F, 2008
|
| |
|
213
|
PARK2 *103C>T
(g.1382807C>T)
Pathogenic nature unclear
|
3'UTR
|
Bardien S, 2009
|
| |
Selection: Gene = PARK2
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