Mutation

Exon /
Domain

Citations

1

PINK1 IVS1-7A>G
   (g.159642A>G)
   Not pathogenic

IVS1

Valente EM, 2004
Valente EM, 2004
Clarimón J, 2006
Godeiro-Junior C, 2009

2

PINK1 Gly309Asp
   (g.166446G>A)
   Pathogenic nature unclear

EX4
Kinase

Valente EM, 2004

3

PINK1 Arg312
   (g.166456G>A)
   Not pathogenic

EX4
Kinase

Valente EM, 2004

4

PINK1 IVS4-5G>A
   (g.167362G>A)
   Not pathogenic

IVS4

Valente EM, 2004
Valente EM, 2004
Schlitter AM, 2005
Godeiro-Junior C, 2009

5

PINK1 Ala340Thr
   (g.167425G>A)
   Not pathogenic

EX5
Kinase

Valente EM, 2004
Groen JL, 2004
Clarimón J, 2006
Tan EK, 2006
Wang F, 2006

6

PINK1 Trp437Stop
   (g.170861G>A)

EX7
Kinase

Valente EM, 2004
Bonifati V, 2005
Criscuolo C, 2009

7

PINK1 Asn521Thr
   (g.172314A>C)
   Not pathogenic

EX8
C-term

Valente EM, 2004
Rohé CF, 2004
Groen JL, 2004
Schlitter AM, 2005
Clarimón J, 2006
Tan EK, 2006
Myhre R, 2008
Godeiro-Junior C, 2009