Parkinson Disease Mutation Database

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Mutations in PARK2

Mutation

Exon /
Domain

Citations

1

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

2

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

3

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

4

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

5

PARK2 Ser167Asn
   (g.0531638G>A)

   Not pathogenic

EX4
L1

Hattori N, 1998
Wang M, 1999
Satoh J, 1999
Hu CJ, 2000
Mellick GD, 2001
Oliveri RL, 2001
Mata IF, 2002
Eerola J, 2002
Foroud T, 2003
Oliveira SA, 2003
Lücking CB, 2003
Peng R, 2003
Sinha R, 2005
Li X, 2005
Clark LN, 2006
Kay DM, 2007
Ghione I, 2007
Biswas A, 2007
Wu YR, 2009
Koziorowski D, 2009
Martínez HR, 2010

6

PARK2 Gly179fs
   (g.0678630delG)

EX5
L1

Hattori N, 1998


Selection: Publication ID = 198



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