Mutation

Exon /
Domain

Citations

1

PARK7 ex1-5del
   (g.07561_21658del14098)

EX1-5

Bonifati V, 2003

2

PARK7 ex1-5dup (breakpoints not mapped)
   ()

EX1-5

Macedo MG, 2009

3

PARK7 ex2del (breakpoints not mapped)
   ()

EX2

Guo JF, 2010

4

PARK7 ex5del (breakpoints not mapped)
   ()

EX5

Djarmati A, 2004

5

PARK7 ex5-7del (breakpoints not mapped)
   ()

EX5-7

Hedrich K, 2004

6

PARK7 c.-122_-107del
   (g.10539_10554del16)
   Pathogenic nature unclear

5'UTR

Keyser RJ, 2009

7

PARK7 Leu10Pro
   (g.11658T>C)
   Pathogenic nature unclear

EX2

Guo JF, 2008

8

PARK7 Met26Ile
   (g.11707G>A)
   Pathogenic nature unclear

EX2

Abou-Sleiman PM, 2003

9

PARK7 Ala39Ser
   (g.14192G>T)
   Pathogenic nature unclear

EX3

Tang B, 2006

10

PARK7 Glu64Asp
   (g.14269G>C)
   Pathogenic nature unclear

EX3

Hering R, 2004

11

PARK7 Gly78
   (g.18230C>T)
   Pathogenic nature unclear

EX4

Abou-Sleiman PM, 2003

12

PARK7 IVS4+8_9insA
   (g.18256_18257insA)
   Pathogenic nature unclear

IVS4

Tarantino P, 2009

13

PARK7 Arg98Gln
   (g.19778G>A)
   Not pathogenic

EX5

Abou-Sleiman PM, 2003
Lockhart PJ, 2004
Healy DG, 2004
Clark LN, 2004
Pankratz N, 2006

14

PARK7 Arg98
   (g.19779G>A)
   Not pathogenic

EX5

Abou-Sleiman PM, 2003

15

PARK7 Ala104Thr
   (g.19795G>A)
   Pathogenic nature unclear

EX5

Clark LN, 2004

16

PARK7 IVS5+2_12del
   (g.19809_19819del11)
   Pathogenic nature unclear

IVS5

Hedrich K, 2004

17

PARK7 Asp149Ala
   (g.33774A>C)
   Pathogenic nature unclear

EX7

Abou-Sleiman PM, 2003

18

PARK7 Pro158del
   (g.33799_33801delGCC)
   Pathogenic nature unclear

EX7

Macedo MG, 2009

19

PARK7 Thr160
   (g.33808C>A)
   Not pathogenic

EX7

Pankratz N, 2006

20

PARK7 Glu163Lys
   (g.33815G>A)
   Pathogenic nature unclear

EX7

Annesi G, 2005

21

PARK7 Leu166Pro
   (g.33825T>C)

EX7

Bonifati V, 2003

22

PARK7 Ala167
   (g.33829A>G)
   Not pathogenic

EX7

Abou-Sleiman PM, 2003

23

PARK7 Ala171Ser
   (g.33839G>T)
   Pathogenic nature unclear

EX7

Clark LN, 2004

24

PARK7 Lys175Glu
   (g.33851A>G)
   Pathogenic nature unclear

EX7

Nuytemans K, 2009

25

PARK7 Ala179Thr
   (g.33863G>A)
   Pathogenic nature unclear

EX7

Macedo MG, 2009
Nuytemans K, 2009

26

PARK7 Val186
   (g.33886T>C)
   Not pathogenic

EX7

Hering R, 2004

27

PARK7 c.*120insA
   (g.34018_34019insA)
   Pathogenic nature unclear

EX7

Abou-Sleiman PM, 2003

28

PARK7 c.*203G>A
   (g.34101G>A)
   Pathogenic nature unclear

EX7

Abou-Sleiman PM, 2003