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Mutations in
SNCA
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1
|
SNCA tripSNCA [S]
()
|
Complete gene
Complete protein |
Singleton AB, 2003
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2
|
SNCA tripSNCA [F-I]
()
|
Complete gene
Complete protein |
Farrer M, 2004
Fuchs J, 2007
Puschmann A, 2009
Puschmann A, 2009
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3
|
SNCA dupSNCA [Fu-J]
()
|
Complete gene
Complete protein |
Fuchs J, 2007
Puschmann A, 2009
Puschmann A, 2009
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4
|
SNCA dupSNCA [P59]
()
|
Complete gene
Complete protein |
Chartier-Harlin MC, 2004
|
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5
|
SNCA dupSNCA [P1]
()
|
Complete gene
Complete protein |
Ibáñez P, 2004
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6
|
SNCA dupSNCA[ P2]
()
|
Complete gene
Complete protein |
Ibáñez P, 2004
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7
|
SNCA dupSNCA [A]
()
|
Complete gene
Complete protein |
Nishioka K, 2006
Nishioka K, 2009
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8
|
SNCA dupSNCA [B]
()
|
Complete gene
Complete protein |
Nishioka K, 2006
Nishioka K, 2009
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9
|
SNCA dupSNCA [A1]
()
|
Complete gene
Complete protein |
Ahn TB, 2008
|
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10
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SNCA dupSNCA [A2]
()
|
Complete gene
Complete protein |
Ahn TB, 2008
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11
|
SNCA dupSNCA [A3]
()
|
Complete gene
Complete protein |
Ahn TB, 2008
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12
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SNCA dupSNCA [I]
()
|
Complete gene
Complete protein |
Ikeuchi T, 2008
|
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13
|
SNCA tripSNCA [FPD-014]
()
|
Complete gene
Complete protein |
Ibáñez P, 2009
|
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14
|
SNCA dupSNCA [FPD-131]
()
|
Complete gene
Complete protein |
Ibáñez P, 2009
|
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15
|
SNCA dupSNCA[ FPD-321]
()
|
Complete gene
Complete protein |
Ibáñez P, 2009
|
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16
|
SNCA dupSNCA [FPD-410]
()
|
Complete gene
Complete protein |
Ibáñez P, 2009
|
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17
|
SNCA dupSNCA [FPD-437]
()
|
Complete gene
Complete protein |
Ibáñez P, 2009
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18
|
SNCA dupSNCA [N]
()
|
Complete gene
Complete protein |
Nuytemans K, 2009
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19
|
SNCA tripSNCA [K]
()
|
Complete gene
Complete protein |
Keyser RJ, 2009
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20
|
SNCA dupSNCA [S]
()
|
Complete gene
Complete protein |
Sironi F, 2009
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21
|
SNCA dupSNCA [S1]
()
|
Complete gene
Complete protein |
Shin CW, 2010
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22
|
SNCA dupSNCA [S2]
()
|
Complete gene
Complete protein |
Shin CW, 2010
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23
|
SNCA Ala30Pro
(g.029876G>C)
|
EX2
|
Krüger R, 1998
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24
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SNCA IVS2+9A>C
(g.029918A>C)
Pathogenic nature unclear
|
IVS2
|
Nuytemans K, 2009
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25
|
SNCA Glu46Lys
(g.037295G>A)
|
EX3
|
Zarranz JJ, 2004
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26
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SNCA Ala53Thr
(g.037316G>A)
|
EX3
|
Polymeropoulos MH, 1997
Papadimitriou A, 1999
Athanassiadou A, 1999
Scott WK, 1999
Spira PJ, 2001
Michell AW, 2005
Ki CS, 2007
Choi JM, 2008
Puschmann A, 2009
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27
|
SNCA c.*893C>T
(g.139829C>T)
Not pathogenic
|
3'UTR
|
Pals P, 2004
Mueller JC, 2005
Mizuta I, 2006
Ross OA, 2007
Winkler S, 2007
Myhre R, 2008
Rajput A, 2009
Hu FY, 2010
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Selection: Gene = SNCA
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