Alzheimer Disease & Frontotemporal Dementia Mutation Database

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Mutations in GRN

Mutation

Exon /
Domain

Citations

1

GRN delGRN[DR184]
   ()

Complete gene
Complete protein

Gijselinck I, 2008

2

GRN IVS1+3A>T
   (g.-3828A>T)

IVS1
Complete protein

Le Ber I, 2007

3

GRN IVS1+5G>C
   (g.-3826G>C)

IVS1
Complete protein

Cruts M, 2006
Brouwers N, 2007

4

GRN delGRN[French]
   (g.-95_3490del)

IVS1-IVS12
Complete protein

Rovelet-Lecrux A, 2008

5

GRN Met1
   (g.1A>G)

EX2
Signal peptide

Le Ber I, 2008

6

GRN Met1
   (g.2T>C)

EX2
Signal peptide

Baker M, 2006
Gass J, 2006

7

GRN Met1
   (g.3G>A)

EX2
Signal peptide

Cruts M, 2006

8

GRN Val5Leu
   (g.13G>C)

   Pathogenic nature unclear

EX2
Signal peptide

López de Munain A, 2008

9

GRN Trp7Arg
   (g.19T>C)

   Pathogenic nature unclear

EX2
Signal peptide

Le Ber I, 2008

10

GRN Ala9Asp
   (g.26C>A)

EX2
Signal peptide

Mukherjee O, 2006
Gass J, 2006
Spina S, 2007
Ghetti B, 2008
Mukherjee O, 2008
Spina S, 2008
Kelley BJ, 2009

11

GRN Leu14
   (g.42G>A)

   Not pathogenic

EX2
Signal peptide

Guerreiro RJ, 2008
Guerreiro RJ, 2010

12

GRN Arg19Trp
   (g.55C>T)

   Not pathogenic

EX2
ParaGran

Gass J, 2006
Schymick J, 2007
Guerreiro RJ, 2010
Del Bo R, 2011

13

GRN Asp22fs
   (g.63_64insC)

EX2
ParaGran

Gass J, 2006
Pietroboni AM, 2011

14

GRN Cys31fs
   (g.90_91insCTGC)

EX2
ParaGran

Baker M, 2006
Gass J, 2006
Beck J, 2008
Rohrer JD, 2008
Rohrer JD, 2009
Yu CE, 2010
Rohrer JD, 2010

15

GRN Asp33Glu
   (g.99C>A)

   Pathogenic nature unclear

EX2
ParaGran

Brouwers N, 2008
Nuytemans K, 2008

16

GRN Asp33
   (g.99C>T)

   Not pathogenic

EX2
ParaGran

Gass J, 2006
van der Zee J, 2007
Schymick J, 2007
Le Ber I, 2007
Mukherjee O, 2008
Sleegers K, 2008
Cortini F, 2008
Chiang HH, 2008
Guerreiro RJ, 2010
Del Bo R, 2011

17

GRN Gly35fs
   (g.102delC)

EX2
ParaGran

Gass J, 2006
Chiang HH, 2008
Skoglund L, 2009

18

GRN Pro34
   (g.102C>T)

   Pathogenic nature unclear

EX2
ParaGran

van der Zee J, 2007
Le Ber I, 2007

19

GRN Gly35Arg
   (g.103G>A)

   Pathogenic nature unclear

EX2
ParaGran

Galimberti D, 2008
Cortini F, 2008

20

GRN IVS2+1G>A
   (g.139G>A)

IVS2
Complete protein

Gass J, 2006
Boeve BF, 2006
Pickering-Brown SM, 2006
Kelley BJ, 2009

21

GRN Thr52fs
   (g.277delA)

EX3
InterParaG

Gass J, 2006
Kelley BJ, 2009
Lindquist S, 2009

22

GRN Thr52Hisfs
   (g.279delA)

   Pathogenic nature unclear

EX3

Kelley BJ, 2010

23

GRN Leu53Pro
   (g.281T>C)

   Pathogenic nature unclear

EX3
InterParaG

Skoglund L, 2007

24

GRN Arg55Trp
   (g.286A>T)

   Not pathogenic

EX3
InterParaG

Guerreiro RJ, 2010

25

GRN Ala69Thr
   (g.328G>A)

   Not pathogenic

EX3
GranG

Guerreiro RJ, 2010

26

GRN Thr76
   (g.351C>T)

   Not pathogenic

EX3
GranG

Guerreiro RJ, 2010

27

GRN Gly79fs
   (g.357_358delAG)

EX3
GranG

Gass J, 2006

28

GRN Ser82fs
   (g.366delC)

EX3
GranG

Bronner IF, 2007

29

GRN Phe86fs
   (g.378delC)

EX3
GranG

Gijselinck I, 2008

30

GRN Glu88
   (g.387G>A)

   Pathogenic nature unclear

EX3
GranG

Gass J, 2006

31

GRN Ala89
   (g.505C>T)

   Not pathogenic

EX4
GranG

Guerreiro RJ, 2010

32

GRN Ala89fs;IVS3+2T>C
   (g.389T>C)

IVS3
GranG

Gijselinck I, 2008

33

GRN Gly93
   (g.517G>A)

   Not pathogenic

EX4
GranG

Bronner IF, 2007
van der Zee J, 2007

34

GRN Cys105Arg
   (g.551T>C)

   Pathogenic nature unclear

EX4
GranG

Gass J, 2006

35

GRN Ser106Asn
   (g.555G>A)

   Not pathogenic

EX4
GranG

van der Zee J, 2007

36

GRN Asp108
   (g.562C>T)

   Not pathogenic

EX4
GranG

Guerreiro RJ, 2010

37

GRN Arg110X
   (g.566C>T)

EX4
GranG

Van Deerlin VM, 2007
Le Ber I, 2008
Yu CE, 2010

38

GRN Arg110Gln
   (g.567G>A)

   Pathogenic nature unclear

EX4
GranG

Sleegers K, 2008

39

GRN Asn118fs
   (g.1064delG)

EX5
interGF

Le Ber I, 2008
Gijselinck I, 2008

40

GRN Asn119del
   (g.1069_1071delAAC)

   Not pathogenic

EX5
InterGF

Guerreiro RJ, 2010

41

GRN Ser120Tyr
   (g.1073C>A)

   Not pathogenic

EX5
InterGF

Schymick J, 2007
Guerreiro RJ, 2010
Del Bo R, 2011

42

GRN Val121fs
   (g.1075delG)

EX5
InterGF

Le Ber I, 2007
Le Ber I, 2008

43

GRN Ile124Thr
   (g.1085T>C)

   Pathogenic nature unclear

EX5
GranF

Sleegers K, 2008

44

GRN Gln125X
   (g.1087C>T)

EX5
GranF

Baker M, 2006
Cruts M, 2006
Bronner IF, 2007

45

GRN Pro127fs
   (g.1094_1095delCT)

EX5
GranF

Cruts M, 2006
Le Ber I, 2008

46

GRN Asp128
   (g.1098T>C)

   Not pathogenic

EX5
GranF

Gass J, 2006
van der Zee J, 2007
Guerreiro RJ, 2008
Sleegers K, 2008
Tremolizzo L, 2009
Guerreiro RJ, 2010
Del Bo R, 2011

47

GRN Gln130fs
   (g.1098_1101delTAGT)

EX5
GranF

Le Ber I, 2007
Le Ber I, 2008

48

GRN Gln130fs
   (g.1102_1105delCAGT)

EX5
GranF

Baker M, 2006
Gass J, 2006
Beck J, 2008
Finch N, 2009
Carecchio M, 2009
Yu CE, 2010
Rohrer JD, 2010

49

GRN Pro134
   (g.1116G>A)

   Not pathogenic

EX5
GranF

Guerreiro RJ, 2010

50

GRN Thr138
   (g.1128G>A)

   Pathogenic nature unclear

EX5
GranF

Sleegers K, 2008

51

GRN Cys139Arg
   (g.1129T>C)

   Pathogenic nature unclear

EX5
GranF

Brouwers N, 2008
Finch N, 2009
Bernardi L, 2009

52

GRN Val141Ile
   (g.1135G>A)

   Not pathogenic

EX5
GranF

Schymick J, 2007

53

GRN Ala155fs
   (g.1277G>A)

IVS5
GranF

Gass J, 2006
Le Ber I, 2008

54

GRN Cys157fs
   (g.1283_1289delCTGCTGT)

EX6
GranF

Le Ber I, 2007
Le Ber I, 2008

55

GRN Cys158Tyr
   (g.1288G>A)

   Not pathogenic

EX6
GranF

van der Zee J, 2007

56

GRN Gly168Ser
   (g.1317G>A)

   Pathogenic nature unclear

EX6
GranF

Pickering-Brown SM, 2008

57

GRN Ala169
   (g.1322C>G)

   Not pathogenic

EX6
GranF

Guerreiro RJ, 2010

58

GRN Arg177His
   (g.1345G>A)

   Pathogenic nature unclear

EX6
GranF

López de Munain A, 2008

59

GRN Thr182Met
   (g.1360C>T)

   Not pathogenic

EX6
InterFB

Bronner IF, 2007
Schymick J, 2007
Guerreiro RJ, 2008
Guerreiro RJ, 2010

60

GRN Thr182
   (g.1361G>A)

   Not pathogenic

EX6
InterFB

Guerreiro RJ, 2010

61

GRN Arg198fs
   (g.1407_1408delAG)

EX6
InterFB

Finch N, 2009

62

GRN Ala199Val
   (g.1411C>T)

   Pathogenic nature unclear

EX6
interFB

Beck J, 2008
Rohrer JD, 2010

63

GRN Ser203fs
   (g.1531_1532insC)

EX7
interFB

Beck J, 2008
Rohrer JD, 2010

64

GRN Arg212Gln
   (g.1563G>A)

   Not pathogenic

EX7
GranB

van der Zee J, 2007
Brouwers N, 2008

65

GRN Thr220Ser
   (g.1586A>T)

   Not pathogenic

EX7
GranB

van der Zee J, 2007

66

GRN Cys221Ser
   (g.1590G>C)

   Not pathogenic

EX7
GranB

Guerreiro RJ, 2010

67

GRN Ser226fs
   (g.1603_1604delCA)

EX7
GranB

Gass J, 2006
Van Deerlin VM, 2007
Davion S, 2007
Coppola G, 2008
Yu CE, 2010

68

GRN Pro233Gln
   (g.1626C>A)

   Pathogenic nature unclear

EX7
GranB

Bronner IF, 2007

69

GRN Asn236
   (g.1636C>T)

   Pathogenic nature unclear

EX7
GranB

Gass J, 2006

70

GRN Val200fs; IVS7+1G>A
   (g.1637G>A)

IVS7
InterFB

Masellis M, 2006
Le Ber I, 2007
Le Ber I, 2008

71

GRN Val200fs
   (g.1637G>C)

IVS7
InterFB

Gass J, 2006

72

GRN IVS7-3C>G
   (g.1870C>G)

   Pathogenic nature unclear

IVS7
GranB

Benussi L, 2008

73

GRN Ala237fs
   (g.1871A>G)

IVS7
GranB

Behrens MI, 2007
Spina S, 2007
Leverenz JB, 2007
Davion S, 2007
Ghetti B, 2008
Mukherjee O, 2008

74

GRN Ala237fs
   (g.1872G>A)

IVS7
GranB

López de Munain A, 2008
Moreno F, 2009

75

GRN Pro248Leu
   (g.1907C>T)

   Pathogenic nature unclear

EX8
GranB

van der Zee J, 2007
Le Ber I, 2007

76

GRN Cys253X
   (g.1923_1924delTG)

EX8
GranB

Gass J, 2006
Le Ber I, 2008

77

GRN Ser258Asn
   (g.1937G>A)

   Pathogenic nature unclear

EX8
GranB

van der Zee J, 2007
Le Ber I, 2007

78

GRN Lys259X
   (g.1939A>T)

EX8
GranB

Schlachetzki JC, 2009

79

GRN Leu261Ile
   (g.1945C>A)

   Not pathogenic

EX8
InterBA

van der Zee J, 2007
Brouwers N, 2008

80

GRN Ser262
   (g.1950C>T)

   Not pathogenic

EX8
InterBA

Guerreiro RJ, 2010

81

GRN Thr268
   (g.1968G>A)

   Not pathogenic

EX8
InterBA

van der Zee J, 2007
Sleegers K, 2008

82

GRN Thr272fs
   (g.1977_1980delCACT)

EX8
InterBA

Benussi L, 2008
Le Ber I, 2008
Borroni B, 2008
Benussi L, 2008
Tremolizzo L, 2009
Carecchio M, 2009
Yu CE, 2010

83

GRN Ala237fs
   (g.1999_2000insCTGA)

IVS8
GranB

Cruts M, 2006

84

GRN Val279fs;IVS8-1G>C
   (g.2198G>C)

IVS8
InterBA

Gass J, 2006
Coppola G, 2008

85

GRN Glu287Asp
   (g.2224G>C)

   Pathogenic nature unclear

EX9
GranA

Gass J, 2006

86

GRN Tyr294X
   (g.2245T>G)

EX9
GranA

Steinbach P, 2009

87

GRN Gln300X
   (g.2261C>T)

EX9
GranA

Beck J, 2008
Rohrer JD, 2009

88

GRN Ser301
   (g.2266G>A)

   Not pathogenic

EX9
GranA

Gass J, 2006
van der Zee J, 2007
Sleegers K, 2008

89

GRN Gly302fs
   (g.2266_2267insTG)

EX9
GranA

Guerreiro RJ, 2008

90

GRN Ala303fs
   (g.2270_2271insG)

EX9
GranA

Gijselinck I, 2008

91

GRN Trp304fs
   (g.2272delC)

EX9
GranA

Lladó A, 2007

92

GRN Trp304fs
   (g.2273_2274insTG)

EX9
GranA

Gass J, 2006
Kelley BJ, 2009

93

GRN Trp304X
   (g.2274G>A)

EX9
GranA

Gass J, 2006
Van Deerlin VM, 2007
Yu CE, 2010

94

GRN Val279fs
   (g.2297G>A)

IVS9
GranA

Baker M, 2006
Gass J, 2006

95

GRN Cys314X
   (g.2394C>A)

EX10
GranA

Le Ber I, 2007
Le Ber I, 2008

96

GRN Ala324Thr
   (g.2422G>A)

   Not pathogenic

EX10
GranA

Gass J, 2006
Schymick J, 2007
Beck J, 2008
Pickering-Brown SM, 2008
Sleegers K, 2008
Brouwers N, 2008
Nuytemans K, 2008
Finch N, 2009

97

GRN Lys332
   (g.2448G>A)

   Not pathogenic

EX10
GranA

van der Zee J, 2007

98

GRN Gly333fs
   (g.2450delG)

EX10
GranA

Gass J, 2006
Mesulam M, 2007
Kelley BJ, 2009

99

GRN Gln337X
   (g.2461C>T)

EX10
InterAC

Van Deerlin VM, 2007
Yu CE, 2010

100

GRN His340fs
   (g.2466delG)

EX10
GranA

Benussi L, 2008

101

GRN Gln341X
   (g.2473C>T)

EX10
GranA

Benussi L, 2008

102

GRN Pro357fs
   (g.2522delC)

EX10
InterAC

López de Munain A, 2008

103

GRN Gln358X
   (g.2524C>T)

EX10
InterAC

Spina S, 2008

104

GRN Cys366fs
   (g.2547_2548delCT)

EX10
GranC

Le Ber I, 2007
Le Ber I, 2008

105

GRN Asp376Asn
   (g.2578G>A)

   Not pathogenic

EX10
GranC

Guerreiro RJ, 2010

106

GRN Thr382fs
   (g.2596_2597insA)

EX10
GranC

Bruni AC, 2007
Frangipane F, 2008

107

GRN Thr382fs
   (g.2597delC)

EX10
GranC

Baker M, 2006
Gass J, 2006
Kelley BJ, 2009

108

GRN Trp386X
   (g.2609G>A)

EX10
GranC

Baker M, 2006
Gass J, 2006
Lindquist S, 2009
Yu CE, 2010

109

GRN Pro392
   (g.2628A>C)

   Pathogenic nature unclear

EX10
GranC

Schymick J, 2007

110

GRN Ser398Leu
   (g.2864C>T)

   Not pathogenic

EX11
GranC

Guerreiro RJ, 2010

111

GRN Gln401X
   (g.2872C>T)

EX11
GranC

Le Ber I, 2007
Le Ber I, 2008

112

GRN Thr409
   (g.2898G>A)

   Not pathogenic

EX11
GranC

Guerreiro RJ, 2010

113

GRN Val411fs
   (g.2902_2903delGT)

EX11
GranC

Bronner IF, 2007

114

GRN Ala412fs
   (g.2903_2904insGT)

EX11
GranC

Le Ber I, 2007
Le Ber I, 2008

115

GRN Gly414Val
   (g.2912G>T)

   Not pathogenic

EX11
GranC

Bronner IF, 2007

116

GRN Gln415X
   (g.2914C>T)

EX11
GranC

Pickering-Brown SM, 2008

117

GRN Arg418X
   (g.2923C>T)

EX11
InterCD

Baker M, 2006
Gass J, 2006
Van Deerlin VM, 2007
Schlachetzki JC, 2009
Yu CE, 2010

118

GRN Arg418Gln
   (g.2924G>A)

   Not pathogenic

EX11
InterCD

Gass J, 2006
Bronner IF, 2007
van der Zee J, 2007
Le Ber I, 2007
Sleegers K, 2008

119

GRN Arg432Cys
   (g.2965C>T)

   Pathogenic nature unclear

EX11
InterCD

van der Zee J, 2007
Le Ber I, 2007

120

GRN Arg433Trp
   (g.2968C>T)

   Not pathogenic

EX11
InterCD

Gass J, 2006
Spina S, 2007
van der Zee J, 2007
Schymick J, 2007
Beck J, 2008
Brouwers N, 2008
Nuytemans K, 2008
Finch N, 2009

121

GRN Arg433Gln
   (g.2969G>A)

   Not pathogenic

EX11
InterCD

Mukherjee O, 2008
Guerreiro RJ, 2010

122

GRN His447
   (g.3012C>T)

   Pathogenic nature unclear

EX11
GranD

Bronner IF, 2007
Sleegers K, 2008
Finch N, 2009

123

GRN Pro451Leu
   (g.3023C>T)

   Pathogenic nature unclear

EX11
GranD

Brouwers N, 2008

124

GRN Pro458Leu
   (g.3044C>T)

   Not pathogenic

EX11
GranD

Schymick J, 2007

125

GRN Cys466fs
   (g.3066_3067insC)

EX11
GranD

Gass J, 2006
Kelley BJ, 2009

126

GRN Gln468X
   (g.3073C>T)

EX11
GranD

Baker M, 2006
Yu CE, 2010

127

GRN Leu469Phe
   (g.3078G>T)

   Pathogenic nature unclear

EX11
GranD

Beck J, 2008
Rohrer JD, 2009

128

GRN Pro470Leu
   (g.3080C>T)

   Not pathogenic

EX11
GranD

van der Zee J, 2007

129

GRN IVS11-15_EX12+177del; Δ12
   (g.3162_3354del)

EX12
GranD; InterDE; GranE

Pickering-Brown SM, 2006
Finch N, 2009

130

GRN Cys474fs
   (g.3183_3184delTG)

EX12
GranD

Spina S, 2008

131

GRN Cys474
   (g.3185C>T)

   Pathogenic nature unclear

EX12
GranD

Gass J, 2006

132

GRN Cys475
   (g.3188C>T)

   Not pathogenic

EX12
GranD

van der Zee J, 2007

133

GRN Arg493X
   (g.3240C>T)

EX12
GranD

Huey ED, 2006
Gass J, 2006
Pickering-Brown SM, 2006
Mesulam M, 2007
Spina S, 2007
Van Deerlin VM, 2007
Davion S, 2007
Rademakers R, 2007
Ghetti B, 2008
Spina S, 2008
Kelley BJ, 2009
Rohrer JD, 2010
Yu CE, 2010

134

GRN Cys495
   (g.3248C>T)

   Pathogenic nature unclear

EX12
GranD

van der Zee J, 2007

135

GRN Glu498fs
   (g.3257_3261delAGTGG)

EX12
InterDE

Beck J, 2008
Le Ber I, 2008
Rohrer JD, 2010

136

GRN Ala505
   (g.3278C>T)

   Not pathogenic

EX12
InterDE

Guerreiro RJ, 2010

137

GRN Val514Met
   (g.3303G>A)

   Pathogenic nature unclear

EX12
InterDE

Brouwers N, 2008
Nuytemans K, 2008

138

GRN Gly515Ala
   (g.3307G>C)

   Not pathogenic

EX12
InterDE

Gass J, 2006
van der Zee J, 2007
Brouwers N, 2008
Guerreiro RJ, 2010

139

GRN Asp518
   (g.3317C>T)

   Not pathogenic

EX12
GranE

Guerreiro RJ, 2010
Del Bo R, 2011

140

GRN Cys521Tyr
   (g.3325G>A)

EX12
GranE

Cruchaga C, 2009

141

GRN Arg535X
   (g.3366C>T)

   Pathogenic nature unclear

EX12
GranE

Brouwers N, 2007

142

GRN Trp541Cys
   (g.3386G>C)

   Pathogenic nature unclear

EX12
GranE

Bronner IF, 2007

143

GRN Arg547Cys
   (g.3402C>T)

   Pathogenic nature unclear

EX12
GranE

Wong S, 2008
Wong SH, 2009

144

GRN Val550Ile
   (g.3500G>A)

   Not pathogenic

EX13
GranE

van der Zee J, 2007

145

GRN Arg556Cys
   (g.3518C>T)

   Not pathogenic

EX13
GranE

Schymick J, 2007

146

GRN Arg564Cys
   (g.3542C>T)

   Pathogenic nature unclear

EX13
GranE

Brouwers N, 2008

147

GRN Arg564His
   (g.3543G>A)

   Not pathogenic

EX13
GranE

Guerreiro RJ, 2010

148

GRN Cys565
   (g.3547C>T)

   Not pathogenic

EX13
GranE

van der Zee J, 2007
Le Ber I, 2007
Guerreiro RJ, 2010

149

GRN Pro578
   (g.3586G>A)

   Pathogenic nature unclear

EX13
C-Term

Finch N, 2009


Selection: Gene In (GRN



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