Parkinson Disease Mutation Database

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Mutations in PARK2

Mutation

Exon /
Domain

Citations

1

PARK2 prom+ex1del (breakpoints not mapped)
   ()

Prom+EX1
whole protein

Lesage S, 2007
Lohmann E, 2009

2

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

3

PARK2 ex3dup (breakpoints not mapped)
   ()

EX3
UBL

Bonifati V, 2001
Kann M, 2002
Nichols WC, 2002
Foroud T, 2003
Periquet M, 2003
Wiley J, 2004
Lesage S, 2008
Sironi F, 2008
Lohmann E, 2009
Nuytemans K, 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 ex3-6del (breakpoints not mapped)
   ()

EX3-6
UBL-ring1

Rawal N, 2003
Lesage S, 2008
Lohmann E, 2009
Nuytemans K, 2009
Pankratz N, 2009

6

PARK2 ex4del (breakpoints not mapped)
   ()

EX4
L1

Kitada T, 1998
Hattori N, 1998
Abbas N, 1999
Maruyama M, 2000
Hayashi S, 2000
Ujike H, 2001
Jeon BS, 2001
Hedrich K, 2002
Kann M, 2002
Wu RM, 2002
Foroud T, 2003
Rawal N, 2003
Kim JS, 2003
Periquet M, 2003
Dogu O, 2004
Wang T, 2004
Sun M, 2006
Shadrina MI, 2007
Lesage S, 2008
Choi JM, 2008
Guo JF, 2008
Myhre R, 2008
Lohmann E, 2009
Lee MJ, 2009
Macedo MG, 2009
Bardien S, 2009
Pankratz N, 2009
Keyser RJ, 2009
Guo JF, 2010

7

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

8

PARK2 ex6dup (breakpoints not mapped)
   ()

EX6
ring1

Periquet M, 2003
Varrone A, 2004
Chaudhary S, 2006
Lohmann E, 2009
Lee MJ, 2009
Nuytemans K, 2009

9

PARK2 ex8-9del (breakpoints not mapped)
   ()

EX8-9
ring1-IBR

Lücking CB, 1998
Tassin J, 2000
Hoenicka J, 2002
Nichols WC, 2002
Foroud T, 2003
Madegowda RH, 2005
Lohmann E, 2009
Pankratz N, 2009

10

PARK2 Gln34fs
   (g.0289423_0289424delAG)

EX2
UBL

Abbas N, 1999
Hedrich K, 2002
Foroud T, 2003
Gouider-Khouja N, 2003
Illarioshkin SN, 2003
Scherfler C, 2004
Romito LM, 2005
Lesage S, 2008
Guo JF, 2008
Lohmann E, 2009
Brooks J, 2009
Brüggemann N, 2009
Koziorowski D, 2009
Pankratz N, 2009
Guo JF, 2010

11

PARK2 Asn52fs
   (g.0289477delA)

EX2
UBL

Abbas N, 1999
Hedrich K, 2002
Hoenicka J, 2002
Nichols WC, 2002
Muñoz E, 2002
Rawal N, 2003
Hedrich K, 2004
Sun M, 2006
Dächsel JC, 2006
Lesage S, 2008
Bras J, 2008
Lohmann E, 2009
Nuytemans K, 2009
Camargos ST, 2009
Brooks J, 2009
Pankratz N, 2009

12

PARK2 Arg275Trp
   (g.0946983C>T)

   Pathogenic nature unclear

EX7
ring1

Abbas N, 1999
Pramstaller PP, 2002
Hedrich K, 2002
Kann M, 2002
Nichols WC, 2002
Foroud T, 2003
Rawal N, 2003
Periquet M, 2003
Scherfler C, 2004
Wiley J, 2004
Hedrich K, 2004
Arias Vásquez A, 2004
Klein C, 2005
Sinha R, 2005
Clark LN, 2006
Sun M, 2006
Lesage S, 2008
Wang Y, 2008
Sironi F, 2008
Lohmann E, 2009
Macedo MG, 2009
Nuytemans K, 2009
Brooks J, 2009
Brüggemann N, 2009
Pankratz N, 2009

13

PARK2 Cys441Arg
   (g.1382627T>C)

   Pathogenic nature unclear

EX12
ring2

Shyu WC, 2005
Chan DK, 2008
Guo JF, 2008
Lohmann E, 2009
Lee MJ, 2009


Selection: Publication ID = 411



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