Overview of included studies for PARK-Parkin:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% ♂) 		Mean AAO (+/- SD) Reported mutations
Johansen, 2011 Mutational screen 2 n.a. n.a. 34(+/-2) c.(534+1_535-1)_(618+1_619-1)del: hom
Kay, 2010 Mutational screen 16 n.a. 69% 32(+/-12) p.Pro113Thrfs*51: hom
c.(7+1_8-1)_(171+1_172-1)del: hom
p.Pro113Thrfs*51
+ c.(7+1_8-1)_(171+1_172-1)del: comp. het.
c.(171+1_172-1)_(412+1_413-1)del: comp. het.
c.(618+1_619-1)_(734+1_735-1)del: comp. het.
p.Gly430Asp
+ c.(412+1_413-1)_(534+1_535-1)del: comp. het.
c.(534+1_535-1)_(618+1_619-1)del: comp. het.
p.Arg275Trp: comp. het.
c.(7+1_8-1)_(534+1_535-1)dup
+ c.(7+1_8-1)_(412+1_413-1)del: comp. het.
c.(171+1_172-1)_(534+1_535-1)del: comp. het.
c.(171+1_172-1)_(412+1_413-1)dup: comp. het.
p.Gln34Argfs*5: comp. het.
c.(7+1_8-1)_(618+1_619-1)dup: comp. het.
 Show more (+10)
Zhang, 2010 Mutational screen 9 A 33% 24(+/-10) c.(7+1_8-1)_(171+1_172-1)del
+ c.(618+1_619-1)_(734+1_735-1)del: comp. het.
c.(734+1_735-1)_(1083+1_1084-1)del: comp. het.
c.(171+1_172-1)_(412+1_413-1)del
+ p.Met1?: comp. het.
p.Gly284Arg: comp. het.
c.(412+1_413-1)_(534+1_535-1)del: hom
c.(171+1_172-1)_(534+1_535-1)del: hom
c.(171+1_172-1)_(534+1_535-1)del
+ c.(734+1_735-1)_(871+1_872-1)del: comp. het.
c.(412+1_413-1)_(534+1_535-1)dup: hom
 Show more (+5)
Guo, 2010 Mutational screen 3 A 67% 28(+/-8) c.(7+1_8-1)_(171+1_172-1)del: hom
c.(7+1_8-1)_(171+1_172-1)del
+ p.Gln34Argfs*5: comp. het.
c.(412+1_413-1)_(534+1_535-1)del: hom
Keyser, 2010 Mutational screen 2 D 50% 45 c.(933+1_934-1)_(1083+1_1084-1)del
+ c.(7+1_8-1)_(171+1_172-1)del: comp. het.
Hanagasi, 2009 Other/Mixed 2 n.a. 50% 37 c.1084-1delG: hom
Sammler, 2009 Case report/Case series 1 n.a. 100% 24 p.Pro113Thrfs*51
+ c.(171+1_172-1)_(534+1_535-1)del: comp. het.
Limousin, 2009 Other/Mixed 11 n.a. 27% 27(+/-9) c.(171+1_172-1)_(412+1_413-1)del: hom
c.(171+1_172-1)_(412+1_413-1)del
+ c.(412+1_413-1)_(534+1_535-1)del: comp. het.
c.(534+1_535-1)_(618+1_619-1)del
+ p.Asn52Metfs*29: comp. het.
p.Cys441Arg: comp. het.
p.Arg275Trp
+ c.(171+1_172-1)_(534+1_535-1)del: comp. het.
c.(?_-103-1)_(7+1_8-1)del: comp. het.
c.(618+1_619-1)_(734+1_735-1)dup: comp. het.
 Show more (+4)
Pankratz, 2009 Mutational screen 27 n.a. n.a. 41(+/-14) p.Met192Val
+ c.(534+1_535-1)_(618+1_619-1)del: comp. het.
c.(618+1_619-1)_(734+1_735-1)del
+ p.Glu79*: comp. het.
p.Gly430Asp
+ c.(7+1_8-1)_(534+1_535-1)[3]: comp. het.
c.1083+5G>T
+ p.Arg33Gln
+ c.(412+1_413-1)_(534+1_535-1)del: comp. het.
p.Gln34Argfs*5: hom
p.Pro113Thrfs*51: hom
c.(7+1_8-1)_(412+1_413-1)del
+ p.Pro113Thrfs*51: comp. het.
c.(171+1_172-1)_(534+1_535-1)del: comp. het.
c.(412+1_413-1)_(734+1_735-1)del: comp. het.
c.(534+1_535-1)_(734+1_735-1)del
+ p.Thr240Met: comp. het.
p.Pro437Leu: hom
p.Lys211Asn: comp. het.
p.Pro437Leu
+ p.Arg275Trp: comp. het.
c.1083+1delG: comp. het.
c.(871+1_872-1)_(933+1_934-1)del: comp. het.
c.(171+1_172-1)_(534+1_535-1)del: hom
c.(412+1_413-1)_(534+1_535-1)dup
+ c.(7+1_8-1)_(534+1_535-1)dup: comp. het.
p.Asn52Metfs*29: hom
p.Asn52Metfs*29: comp. het.
 Show more (+16)
Brooks, 2009 Mutational screen 4 C n.a. 32(+/-7) p.Gln34Argfs*5
+ p.Ala38Valfs*6: comp. het.
p.Gln171*
+ p.Arg275Trp: comp. het.
p.Pro113Thrfs*51: hom
c.(7+1_8-1)_(171+1_172-1)del: comp. het.
 Show more (+1)
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