Overview of included studies for PARK-Parkin:
Filter for
carrying
Study Study design Age restriction N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Elfferich, 2011Mutational screennone12n.g.n.g.35 (+/-12)c.172-5243_412+18307del + c.8-61987_171+4006del: comp. het.
c.734+61166_871+2877dupinsTGCAATT + c.8-48180_171+84346del: comp. het.
p.Gln34Argfs*5 + c.172-4427_413-6108del: comp. het.
p.Arg275Trp + c.172-4427_413-6108del: comp. het.
c.734+61166_871+2877dupinsTGCAATT + c.413-26603_534+367del27092ins28: comp. het.
c.734+61166_871+2877dupinsTGCAATT + c.534+17825_735-64158del: comp. het.
c.171+11347_618+17328del395200 + c.1-17782_7+123791del: comp. het.
p.Arg275Trp + c.8-51502_172-33560dupinsT: comp. het.

Show more (+5)
Hassin-Baer, 2011Family studynone12Bn.g.26 (+/-10)p.Gln34Argfs*10: hom
Ghazavi, 2011Mutational screennone7n.g.n.g.26 (+/-6)p.Cys441Arg + p.Arg42Pro: comp. het.
c.(412+1_413-1)_(534+1_535-1)del + p.Thr240Met: comp. het.
c.(171+1_172-1)_(412+1_413-1)del: hom
c.(534+1_535-1)_(618+1_619-1)del: hom
c.(534+1_535-1)_(734+1_735-1)del: hom
c.1083+1G>A: hom

Show more (+3)
Yoritaka, 2011Other / Mixednone5An.g.41 (+/-14)c.(7+1_8-1)_(171+1_172-1)del: hom
c.(534+1_535-1)_(618+1_619-1)del: hom
c.(7+1_8-1)_(534+1_535-1)del: hom
c.(618+1_619-1)_(871+1_872-1)del: hom
Guo, 2011Mutational screen<509An.g.31 (+/-7)c.(7+1_8-1)_(171+1_172-1)del: hom
p.Gln34Argfs*5 + c.(7+1_8-1)_(171+1_172-1)del: comp. het.
c.(171+1_172-1)_(412+1_413-1)del: hom
p.Cys238Alafs*21 + c.(171+1_172-1)_(412+1_413-1)del: comp. het.
c.(412+1_413-1)_(534+1_535-1)del: hom
c.(534+1_535-1)_(618+1_619-1)del: hom
c.8-39T>G + c.(618+1_619-1)_(734+1_735-1)del: comp. het.
c.(534+1_535-1)_(618+1_619-1)del + c.(7+1_8-1)_(412+1_413-1)del: comp. het.

Show more (+5)
Johansen, 2011Mutational screennone2n.g.n.g.34 (+/-2)c.(534+1_535-1)_(618+1_619-1)del: hom
Kay, 2010Mutational screennone16H, O, n.g.n.g.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 + c.(7+1_8-1)_(171+1_172-1)del: comp. het.
c.(618+1_619-1)_(734+1_735-1)del + c.(7+1_8-1)_(171+1_172-1)del: comp. het.
p.Pro113Thrfs*51 + c.(171+1_172-1)_(412+1_413-1)del: comp. het.
p.Gly430Asp + c.(412+1_413-1)_(534+1_535-1)del: comp. het.
p.Pro113Thrfs*51 + c.(534+1_535-1)_(618+1_619-1)del: comp. het.
p.Arg275Trp + c.(618+1_619-1)_(734+1_735-1)del: comp. het.
c.(7+1_8-1)_(534+1_535-1)dup + c.(7+1_8-1)_(412+1_413-1)del: comp. het.
p.Arg275Trp + c.(171+1_172-1)_(534+1_535-1)del: comp. het.
c.(171+1_172-1)_(412+1_413-1)del + c.(171+1_172-1)_(534+1_535-1)del: comp. het.
p.Arg275Trp + c.(171+1_172-1)_(412+1_413-1)dup: comp. het.
p.Gln34Argfs*5 + c.(7+1_8-1)_(534+1_535-1)dup: comp. het.
p.Gly430Asp + p.Pro113Thrfs*51 + c.(7+1_8-1)_(618+1_619-1)dup: comp. het.

Show more (+12)
Zhang, 2010Mutational screen<499An.g.24 (+/-10)c.(618+1_619-1)_(734+1_735-1)del + c.(7+1_8-1)_(171+1_172-1)del: comp. het.
c.(734+1_735-1)_(1083+1_1084-1)del + c.(7+1_8-1)_(171+1_172-1)del: comp. het.
p.Met1? + c.(171+1_172-1)_(412+1_413-1)del: comp. het.
p.Gly284Arg + c.(171+1_172-1)_(412+1_413-1)del: 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.(734+1_735-1)_(871+1_872-1)del + c.(171+1_172-1)_(534+1_535-1)del: comp. het.
c.(412+1_413-1)_(534+1_535-1)dup: hom

Show more (+5)
Keyser, 2010Mutational screen<502Dn.g.45c.(933+1_934-1)_(1083+1_1084-1)del + c.(7+1_8-1)_(171+1_172-1)del: comp. het.
Hanagasi, 2009Other / Mixednone2n.g.n.g.37c.1084-1delG: hom