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1
|
PINK1 delPINK1
()
|
Complete gene
Complete protein |
Marongiu R, 2007
|
|  |
|
2
|
PINK1 ex3-8del (breakpoints not mapped)
()
|
EX3-8
Kinase |
Guo JF, 2010
|
| |
|
3
|
PINK1 ex4-8del (breakpoints not mapped)
()
|
EX4-8
Kinase |
Cazeneuve C, 2009
|
| |
|
4
|
PINK1 ex6-8del (breakpoints not mapped)
()
|
EX6-8
Kinase |
Li Y, 2005
Atsumi M, 2006
|
| |
|
5
|
PINK1 ex7del
(g.170750_171044del295)
|
EX7
Kinase |
Samaranch L, 2010
|
| |
|
6
|
PINK1 ex7del (breakpoints not mapped)
()
|
EX7
Kinase |
Camargos ST, 2009
|
| |
|
7
|
PINK1 c.-82G>A
(g.155274G>A)
Pathogenic nature unclear
|
5'UTR
|
Bonifati V, 2005
|
| |
|
8
|
PINK1 c.-21G>A
(g.155335G>A)
Pathogenic nature unclear
|
5'UTR
|
Klein C, 2005
|
| |
|
9
|
PINK1 c.-20C>T
(g.155336C>T)
Pathogenic nature unclear
|
5'UTR
|
Bonifati V, 2005
|
| |
|
10
|
PINK1 Lys24fs
(g.155425_155456del32)
|
EX1
Transit |
Ibáñez P, 2006
|
| |
|
11
|
PINK1 Gly32Arg
(g.155449G>A)
Pathogenic nature unclear
|
EX1
Transit |
Choi JM, 2008
|
| |
|
12
|
PINK1 Pro52Leu
(g.155510C>T)
Pathogenic nature unclear
|
EX1
Transit |
Brooks J, 2009
|
| |
|
13
|
PINK1 Leu63
(g.155544C>T)
Not pathogenic
|
EX1
Transit |
Valente EM, 2004
Groen JL, 2004
Schlitter AM, 2005
|
| |
|
14
|
PINK1 Leu67Phe
(g.155554C>T)
Pathogenic nature unclear
|
EX1
Transit |
Marongiu R, 2008
|
| |
|
15
|
PINK1 Arg68Pro
(g.15558_15559GC>CT)
Pathogenic nature unclear
|
EX1
Transit |
Valente EM, 2004
Marongiu R, 2008
|
| |
|
16
|
PINK1 Ala78Val
(g.155588C>T)
Pathogenic nature unclear
|
EX1
L1 |
Kumazawa R, 2008
|
| |
|
17
|
PINK1 Cys92Phe
(g.155630G>T)
|
EX1
L1 |
Valente EM, 2004
|
| |
|
18
|
PINK1 Arg98Trp
(g.155647C>T)
Pathogenic nature unclear
|
EX1
TM |
Marongiu R, 2008
|
| |
|
19
|
PINK1 Ile111Ser
(g.155687T>G)
Pathogenic nature unclear
|
EX1
L2 |
Marongiu R, 2008
|
| |
|
20
|
PINK1 Gln115Leu
(g.155699A>T)
Not pathogenic
|
EX1
L2 |
Bonifati V, 2005
Schlitter AM, 2005
Ishihara-Paul L, 2008
|
| |
|
21
|
PINK1 Ala124Val
(g.155726C>T)
Pathogenic nature unclear
|
EX1
L2 |
Marongiu R, 2008
|
| |
|
22
|
PINK1 Cys125Gly
(g.155728T>G)
Pathogenic nature unclear
|
EX1
L2 |
Ibáñez P, 2006
|
| |
|
23
|
PINK1 Gln126Pro
(g.155732A>C)
Pathogenic nature unclear
|
EX1
L2 |
Prestel J, 2008
|
| |
|
24
|
PINK1 Gln129fs
(g.155740delC)
|
EX1
L2 |
Ishihara-Paul L, 2008
|
| |
|
25
|
PINK1 Gln129Stop
(g.155740C>T)
|
EX1
L2 |
Ishihara-Paul L, 2008
|
| |
|
26
|
PINK1 IVS1+14G>A
(g.155756G>A)
Pathogenic nature unclear
|
IVS1
|
Biswas A, 2009
|
| |
|
27
|
PINK1 IVS1-7A>G
(g.159642A>G)
Not pathogenic
|
IVS1
|
Valente EM, 2004
Valente EM, 2004
Clarimón J, 2006
Godeiro-Junior C, 2009
|
| |
|
28
|
PINK1 Thr145Met
(g.159695C>T)
Pathogenic nature unclear
|
EX2
L2 |
Marongiu R, 2008
Ishihara-Paul L, 2008
|
| |
|
29
|
PINK1 Arg147His
(g.159701G>A)
Pathogenic nature unclear
|
EX2
L2 |
Healy DG, 2004
|
| |
|
30
|
PINK1 Arg152Trp
(g.159715C>T)
Pathogenic nature unclear
|
EX2
L2 |
Ishihara-Paul L, 2008
|
| |
|
31
|
PINK1 Ala168Pro
(g.159763G>C)
|
EX2
Kinase |
Valente EM, 2004
Bonifati V, 2005
|
| |
|
32
|
PINK1 Val170Gly
(g.159770T>G)
Pathogenic nature unclear
|
EX2
Kinase |
Toft M, 2007
|
| |
|
33
|
PINK1 Pro179
(g.159798C>T)
Not pathogenic
|
EX2
Kinase |
Biswas A, 2009
|
| |
|
34
|
PINK1 Lys186Asn
(g.159819G>C)
Pathogenic nature unclear
|
EX2
Kinase |
Djarmati A, 2006
Marongiu R, 2008
|
| |
|
35
|
PINK1 Gly189
(g.159828G>A)
Not pathogenic
|
EX2
Kinase |
Brooks JA, 2009
|
| |
|
36
|
PINK1 Gly193Arg
(g.159838G>A)
Pathogenic nature unclear
|
EX2
Kinase |
Weng YH, 2007
|
| |
|
37
|
PINK1 Pro196fs
(g.159848delC)
|
EX2
Kinase |
Kumazawa R, 2008
|
| |
|
38
|
PINK1 Pro196Leu
(g.159848C>T)
Pathogenic nature unclear
|
EX2
Kinase |
Bonifati V, 2005
|
| |
|
39
|
PINK1 Gly197
(g.159852T>C)
Not pathogenic
|
EX2
Kinase |
Biswas A, 2009
|
| |
|
40
|
PINK1 Pro209Ala
(g.159886C>G)
Pathogenic nature unclear
|
EX2
Kinase |
Lee MJ, 2009
|
| |
|
41
|
PINK1 Pro209Leu
(g.159887C>T)
Pathogenic nature unclear
|
EX2
Kinase |
Djarmati A, 2006
|
| |
|
42
|
PINK1 Ala217Asp
(g.159911C>A)
Pathogenic nature unclear
|
EX2
Kinase |
Leutenegger AL, 2006
|
| |
|
43
|
PINK1 Gly227Arg
(g.161702G>C)
Pathogenic nature unclear
|
EX3
Kinase |
Ishihara-Paul L, 2008
|
| |
|
44
|
PINK1 Glu231Gly
(g.161715A>G)
Pathogenic nature unclear
|
EX3
Kinase |
Rogaeva E, 2004
|
| |
|
45
|
PINK1 Asn235Ile
(g.161727A>T)
Pathogenic nature unclear
|
EX3
Kinase |
Rogaeva E, 2004
|
| |
|
46
|
PINK1 Thr236
(g.161731A>C)
Not pathogenic
|
EX3
Kinase |
Rogaeva E, 2004
|
| |
|
47
|
PINK1 Met237Val
(g.161732A>G)
Pathogenic nature unclear
|
EX3
Kinase |
Macedo MG, 2009
|
| |
|
48
|
PINK1 Glu239Stop
(g.161738C>T)
|
EX3
Kinase |
Hatano Y, 2004
Weng YH, 2007
|
| |
|
49
|
PINK1 Glu240Lys
(g.161741G>A)
Pathogenic nature unclear
|
EX3
Kinase |
Rogaeva E, 2004
Ibáñez P, 2006
|
| |
|
50
|
PINK1 Ala244Gly
(g.161754C>G)
Pathogenic nature unclear
|
EX3
Kinase |
Gelmetti V, 2008
|
| |
|
51
|
PINK1 Arg246Stop
(g.161759C>T)
|
EX3
Kinase |
Hatano Y, 2004
Tan EK, 2006
Ephraty L, 2007
|
| |
|
52
|
PINK1 Arg246Gln
(g.161760G>A)
Pathogenic nature unclear
|
EX3
Kinase |
Biswas A, 2009
|
| |
|
53
|
PINK1 Thr257Ile
(g.161793C>T)
Pathogenic nature unclear
|
EX3
Kinase |
Marongiu R, 2008
|
| |
|
54
|
PINK1 Tyr258Stop
(g.161797C>A)
|
EX3
Kinase |
Tan EK, 2006
Keyser RJ, 2009
|
| |
|
55
|
PINK1 Arg263Gly
(g.166307A>G)
Pathogenic nature unclear
|
EX4
Kinase |
Rogaeva E, 2004
|
| |
|
56
|
PINK1 Leu268Val
(g.166322C>G)
Pathogenic nature unclear
|
EX4
Kinase |
Tan EK, 2005
Marongiu R, 2008
|
| |
|
57
|
PINK1 Leu268
(g.166324A>G)
Not pathogenic
|
EX4
Kinase |
Weng YH, 2007
|
| |
|
58
|
PINK1 His271Gln
(g.166333C>A)
Pathogenic nature unclear
|
EX4
Kinase |
Hatano Y, 2004
|
| |
|
59
|
PINK1 Arg276Gln
(g.166347G>A)
Pathogenic nature unclear
|
EX4
Kinase |
Marongiu R, 2008
Biswas A, 2009
|
| |
|
60
|
PINK1 Leu278Val
(g.166352C>G)
Pathogenic nature unclear
|
EX4
Kinase |
Guo JF, 2010
|
| |
|
61
|
PINK1 Arg279His
(g.166356G>A)
Pathogenic nature unclear
|
EX4
Kinase |
Klein C, 2005
Choi JM, 2008
|
| |
|
62
|
PINK1 Arg279
(g.166357C>T)
Not pathogenic
|
EX4
Kinase |
Toft M, 2007
|
| |
|
63
|
PINK1 Ala280Thr
(g.166358G>A)
Pathogenic nature unclear
|
EX4
Kinase |
Tan EK, 2006
|
| |
|
64
|
PINK1 Thr282
(g.166366C>G)
Not pathogenic
|
EX4
Kinase |
Biswas A, 2009
|
| |
|
65
|
PINK1 Ser284
(g.166372C>T)
Not pathogenic
|
EX4
Kinase |
Bonifati V, 2005
|
| |
|
66
|
PINK1 Val293
(g.166399C>A)
Not pathogenic
|
EX4
Kinase |
Godeiro-Junior C, 2009
|
| |
|
67
|
PINK1 Pro296Leu
(g.166407C>T)
Pathogenic nature unclear
|
EX4
Kinase |
Valente EM, 2004
Marongiu R, 2008
|
| |
|
68
|
PINK1 Pro296
(g.166408T>G)
Not pathogenic
|
EX4
Kinase |
Rogaeva E, 2004
|
| |
|
69
|
PINK1 Asp297fs
(g.166409delG)
|
EX4
Kinase |
Kumazawa R, 2008
Savettieri G, 2008
|
| |
|
70
|
PINK1 Pro305Leu
(g.166434C>T)
Not pathogenic
|
EX4
Kinase |
Healy DG, 2004
|
| |
|
71
|
PINK1 Gly309Asp
(g.166446G>A)
Pathogenic nature unclear
|
EX4
Kinase |
Valente EM, 2004
|
| |
|
72
|
PINK1 Arg312
(g.166456G>A)
Not pathogenic
|
EX4
Kinase |
Valente EM, 2004
|
| |
|
73
|
PINK1 Thr313Met
(g.116458C>T)
|
EX4
Kinase |
Chishti MA, 2006
Kumazawa R, 2008
Guo JF, 2008
|
| |
|
74
|
PINK1 Leu316
(g.166468C>T)
Not pathogenic
|
EX4
Kinase |
Rogaeva E, 2004
|
| |
|
75
|
PINK1 Val317Ile
(g.166469G>A)
Pathogenic nature unclear
|
EX4
Kinase |
Abou-Sleiman PM, 2006
Marongiu R, 2008
Gelmetti V, 2008
|
| |
|
76
|
PINK1 Met318Leu
(g.166472A>T)
Pathogenic nature unclear
|
EX4
Kinase |
Rogaeva E, 2004
Djarmati A, 2006
Brooks J, 2009
|
| |
|
77
|
PINK1 IVS4-5G>A
(g.167362G>A)
Not pathogenic
|
IVS4
|
Valente EM, 2004
Valente EM, 2004
Schlitter AM, 2005
Godeiro-Junior C, 2009
|
| |
|
78
|
PINK1 Pro322Leu
(g.167372C>T)
Pathogenic nature unclear
|
EX5
Kinase |
Marongiu R, 2008
|
| |
|
79
|
PINK1 Arg337
(g.167418C>T)
Not pathogenic
|
EX5
Kinase |
Brooks JA, 2009
|
| |
|
80
|
PINK1 Ala339Thr
(g.167422G>A)
Pathogenic nature unclear
|
EX5
Kinase |
Rogaeva E, 2004
Abou-Sleiman PM, 2006
Marongiu R, 2008
Brooks J, 2009
|
| |
|
81
|
PINK1 Ala340Thr
(g.167425G>A)
Not pathogenic
|
EX5
Kinase |
Valente EM, 2004
Groen JL, 2004
Clarimón J, 2006
Tan EK, 2006
Wang F, 2006
|
| |
|
82
|
PINK1 Met341Ile
(g.167430G>A)
Pathogenic nature unclear
|
EX5
Kinase |
Lee MJ, 2009
|
| |
|
83
|
PINK1 Met342Val
(g.167431A>G)
Pathogenic nature unclear
|
EX5
Kinase |
Kumazawa R, 2008
|
| |
|
84
|
PINK1 Met342Ile
(g.167433G>A)
Pathogenic nature unclear
|
EX5
Kinase |
Nuytemans K, 2009
|
| |
|
85
|
PINK1 Leu347Pro
(g.167447T>C)
Pathogenic nature unclear
|
EX5
Kinase |
Hatano Y, 2004
Rogaeva E, 2004
Doostzadeh J, 2007
|
| |
|
86
|
PINK1 Gln355
(g.167472A>G)
Not pathogenic
|
EX5
Kinase |
Valente EM, 2004
|
| |
|
87
|
PINK1 Asp362His
(g.167491G>C)
Pathogenic nature unclear
|
EX5
Kinase |
Rogaeva E, 2004
|
| |
|
88
|
PINK1 Ser365
(g.167502C>T)
Not pathogenic
|
EX5
Kinase |
Valente EM, 2004
Brooks JA, 2009
|
| |
|
89
|
PINK1 Asn367Ser
(g.167507A>G)
Pathogenic nature unclear
|
EX5
Kinase |
Choi JM, 2008
|
| |
|
90
|
PINK1 Leu369Pro
(g.167513T>C)
Pathogenic nature unclear
|
EX5
Kinase |
Ibáñez P, 2006
|
| |
|
91
|
PINK1 Ala383Thr
(g.170335G>A)
Pathogenic nature unclear
|
EX6
Kinase |
Ibáñez P, 2006
Abou-Sleiman PM, 2006
Marongiu R, 2008
|
| |
|
92
|
PINK1 Phe385Leu
(g.170341T>C)
Pathogenic nature unclear
|
EX6
Kinase |
Choi JM, 2008
|
| |
|
93
|
PINK1 Gly386Ala
(g.170345G>C)
Pathogenic nature unclear
|
EX6
Kinase |
Ibáñez P, 2006
|
| |
|
94
|
PINK1 Cys388Arg
(g.170366T>C)
Pathogenic nature unclear
|
EX6
Kinase |
Li Y, 2005
Kumazawa R, 2008
|
| |
|
95
|
PINK1 Gly395Val
(g.170372G>T)
Pathogenic nature unclear
|
EX6
Kinase |
Marongiu R, 2008
|
| |
|
96
|
PINK1 Asp391
(g.170377T>C)
Not pathogenic
|
EX6
Kinase |
Rogaeva E, 2004
Myhre R, 2008
|
| |
|
97
|
PINK1 Pro399Leu
(g.170384C>T)
Pathogenic nature unclear
|
EX6
Kinase |
Tang B, 2006
|
| |
|
98
|
PINK1 Tyr404
(g.170400C>T)
Not pathogenic
|
EX6
Kinase |
Weng YH, 2007
|
| |
|
99
|
PINK1 Arg407Gln
(g.170408G>A)
Pathogenic nature unclear
|
EX6
Kinase |
Fung HC, 2006
Guo JF, 2010
|
| |
|
100
|
PINK1 Gly409Val
(g.170414G>T)
Pathogenic nature unclear
|
EX6
Kinase |
Ibáñez P, 2006
|
| |
|
101
|
PINK1 Asn410
(g.170418C>T)
Not pathogenic
|
EX6
Kinase |
Godeiro-Junior C, 2009
Godeiro C Jr, 2010
|
| |
|
102
|
PINK1 Gly411Ser
(g.170419G>A)
Pathogenic nature unclear
|
EX6
Kinase |
Zadikoff C, 2006
Abou-Sleiman PM, 2006
Toft M, 2007
Mellick GD, 2009
Brooks J, 2009
|
| |
|
103
|
PINK1 Pro416Arg
(g.170435C>G)
Pathogenic nature unclear
|
EX6
Kinase |
Myhre R, 2008
|
| |
|
104
|
PINK1 Glu417Gly
(g.170438A>G)
Pathogenic nature unclear
|
EX6
Kinase |
Hatano Y, 2004
|
| |
|
105
|
PINK1 23bp del ex7
(g.170800_170822del23)
|
EX7
Kinase |
Marongiu R, 2007
Marongiu R, 2008
|
| |
|
106
|
PINK1 Ser419Pro
(g.170805T>C)
Pathogenic nature unclear
|
EX7
Kinase |
Myhre R, 2008
|
| |
|
107
|
PINK1 Thr420
(g.170810G>A)
Not pathogenic
|
EX7
Kinase |
Brooks J, 2009
|
| |
|
108
|
PINK1 Pro425Ser
(g.170823C>T)
Pathogenic nature unclear
|
EX7
Kinase |
Rogaeva E, 2004
|
| |
|
109
|
PINK1 Ala427Glu
(g.170830C>A)
Pathogenic nature unclear
|
EX7
Kinase |
Brooks J, 2009
|
| |
|
110
|
PINK1 Tyr431His
(g.170841T>C)
Pathogenic nature unclear
|
EX7
Kinase |
Abou-Sleiman PM, 2006
|
| |
|
111
|
PINK1 Trp437Arg
(g.170859T>C)
Pathogenic nature unclear
|
EX7
Kinase |
Kumazawa R, 2008
|
| |
|
112
|
PINK1 Trp437Stop
(g.170861G>A)
|
EX7
Kinase |
Valente EM, 2004
Bonifati V, 2005
Criscuolo C, 2009
|
| |
|
113
|
PINK1 Gly440Glu
(g.170869G>A)
|
EX7
Kinase |
Ishihara-Paul L, 2008
|
| |
|
114
|
PINK1 Ile442Thr
(g.170875T>C)
Pathogenic nature unclear
|
EX7
Kinase |
Valente EM, 2004
Marongiu R, 2008
|
| |
|
115
|
PINK1 Asn451Ser
(g.170902A>G)
Pathogenic nature unclear
|
EX7
Kinase |
Abou-Sleiman PM, 2006
|
| |
|
116
|
PINK1 Tyr454
(g.170912C>T)
Not pathogenic
|
EX7
Kinase |
Weng YH, 2007
|
| |
|
117
|
PINK1 Gln456Stop
(g.170932C>T)
|
EX7
Kinase |
Bonifati V, 2005
Ibáñez P, 2006
Hedrich K, 2006
Zadikoff C, 2006
Abou-Sleiman PM, 2006
Marongiu R, 2008
|
| |
|
118
|
PINK1 Arg464His
(g.170941G>A)
|
EX7
Kinase |
Valente EM, 2004
|
| |
|
119
|
PINK1 Glu476Lys
(g.170976G>A)
Pathogenic nature unclear
|
EX7
Kinase |
Valente EM, 2004
Rogaeva E, 2004
Bonifati V, 2005
Abou-Sleiman PM, 2006
Marongiu R, 2008
Myhre R, 2008
|
| |
|
120
|
PINK1 Val482Met
(g.170994G>A)
Pathogenic nature unclear
|
EX7
Kinase |
Kumazawa R, 2008
|
| |
|
121
|
PINK1 Leu489Pro
(g.171016T>C)
Pathogenic nature unclear
|
EX7
Kinase |
Rogaeva E, 2004
|
| |
|
122
|
PINK1 Arg492Stop
(g.171024C>T)
|
EX7
Kinase |
Hatano Y, 2004
Ibáñez P, 2006
Weng YH, 2007
Guo JF, 2008
Macedo MG, 2009
|
| |
|
123
|
PINK1 IVS7+1G>A
(g.171039G>A)
|
IVS7
Kinase |
Samaranch L, 2010
|
| |
|
124
|
PINK1 IVS7+14C>G
(g.171052C>G)
Pathogenic nature unclear
|
IVS7
|
Valente EM, 2004
|
| |
|
125
|
PINK1 Pro498Leu
(g.172245C>T)
Pathogenic nature unclear
|
EX8
Kinase |
Toft M, 2007
|
| |
|
126
|
PINK1 Lys520fs
(g.172309delG)
|
EX8
C-term |
Ibáñez P, 2006
Choi JM, 2008
|
| |
|
127
|
PINK1 Asn521Thr
(g.172314A>C)
Not pathogenic
|
EX8
C-term |
Valente EM, 2004
Rohé CF, 2004
Groen JL, 2004
Schlitter AM, 2005
Clarimón J, 2006
Tan EK, 2006
Myhre R, 2008
Godeiro-Junior C, 2009
|
| |
|
128
|
PINK1 Asp525Asn
(g.172325G>A)
Pathogenic nature unclear
|
EX8
C-term |
Valente EM, 2004
Marongiu R, 2008
Brooks J, 2009
|
| |
|
129
|
PINK1 Asp525fs
(g.172325_172326insTTAG)
|
EX8
C-term |
Rohé CF, 2004
Bonifati V, 2005
|
| |
|
130
|
PINK1 534_535insQ
(g.172354_172355insCAA)
Pathogenic nature unclear
|
EX8
C-term |
Klein C, 2005
|
| |
|
131
|
PINK1 Asp537Thr
(g.172361G>A)
Pathogenic nature unclear
|
EX8
C-term |
Marongiu R, 2008
|
| |
|
132
|
PINK1 Asn542Ser
(g.172377A>G)
Pathogenic nature unclear
|
EX8
C-term |
Kumazawa R, 2008
|
| |
|
133
|
PINK1 Cys549fs
(g.172399_172402delTGTG)
|
EX8
C-term |
Ibáñez P, 2006
|
| |
|
134
|
PINK1 Cys575Arg
(g.172475T>C)
Pathogenic nature unclear
|
EX8
C-term |
Abou-Sleiman PM, 2006
|
| |
|
135
|
PINK1 Ser576
(g.172496A>G)
Not pathogenic
|
EX8
C-term |
Rogaeva E, 2004
|
| |
|
136
|
PINK1 Stop582Leu
(g.172497G>T)
|
EX8
C-term |
Toft M, 2007
|
| |
|
137
|
PINK1 c.*37T>A
(g.172535T>A)
Not pathogenic
|
3'UTR
|
Rogaeva E, 2004
Schlitter AM, 2005
|
| |
|
138
|
PINK1 c.*40G>A
(g.172538G>A)
Not pathogenic
|
3'UTR
|
Rogaeva E, 2004
Biswas A, 2009
|
| |
