Parkinson Disease Mutation Database

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Mutations in PARK2

Mutation

Exon /
Domain

Citations

1

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

2

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

3

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

4

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

5

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

6

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

7

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

8

PARK2 ex6-7del (breakpoints not mapped)
   ()

EX6-7
ring1

Maruyama M, 2000
Scherfler C, 2004
Bertoli-Avella AM, 2005
Sironi F, 2008

9

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

10

PARK2 ex8-10del (breakpoints not mapped)
   ()

EX8-10
ring1-IBR

Bertoli-Avella AM, 2005

11

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

12

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

13

PARK2 Thr415Asn
   (g.1372674C>A)

EX11
L3

Abbas N, 1999
Bertoli-Avella AM, 2005
Brooks J, 2009

14

PARK2 Cys418Arg
   (g.1372682T>C)

   Pathogenic nature unclear

EX11
ring2

Bertoli-Avella AM, 2005

15

PARK2 IVS11-3C>G
   (g.1382589C>G)

IVS11

Bertoli-Avella AM, 2005
Aguiar P de C, 2008
Barsottini OG, 2009


Selection: Publication ID = 252



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