Mutation

Exon /
Domain

Citations

1

PINK1 Leu63
   (g.155544C>T)
   Not pathogenic

EX1
Transit

Valente EM, 2004
Groen JL, 2004
Schlitter AM, 2005

2

PINK1 Gln115Leu
   (g.155699A>T)
   Not pathogenic

EX1
L2

Bonifati V, 2005
Schlitter AM, 2005
Ishihara-Paul L, 2008

3

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

IVS4

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

4

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

5

PINK1 c.*37T>A
   (g.172535T>A)
   Not pathogenic

3'UTR

Rogaeva E, 2004
Schlitter AM, 2005