Parkinson Disease Mutation Database

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Mutations in PINK1

Mutation

Exon /
Domain

Citations

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


Selection: Gene = PINK1



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