Overview of included studies for PARK-Parkin:
Filter for
carrying
Study Study design Age restriction N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Wang, 2013Mutational screennone5Cn.g.27 (+/-11)c.(734+1_735-1)_(1083+1_1084-1)del + c.(7+1_8-1)_(171+1_172-1)del: comp. het.
c.(412+1_413-1)_(534+1_535-1)del: hom
c.(618+1_619-1)_(734+1_735-1)del: hom
c.(618+1_619-1)_(734+1_735-1)del + c.(7+1_8-1)_(534+1_535-1)del: comp. het.
Doherty, 2013Case report / Case seriesnone7n.g.n.g.34 (+/-8)p.Pro113Thrfs*51 + p.Gly430Asp: comp. het.
p.Pro113Thrfs*51 + p.Arg275Trp: comp. het.
p.Gly430Asp + p.Arg275Trp: comp. het.
c.(618+1_619-1)_(734+1_735-1)del + p.Arg275Trp: comp. het.
Miyakawa, 2013Case report / Case seriesnone1An.g.61c.(7+1_8-1)_(534+1_535-1)del: hom
de Mena, 2013Mutational screen<5016n.g.n.g.30 (+/-9)p.Trp445*: hom
p.Cys212Tyr: hom
p.Gln34Argfs*5 + p.Cys212Tyr: comp. het.
p.Asn52Metfs*29 + p.Arg275Trp: comp. het.
p.Thr240Met + c.(412+1_413-1)_(534+1_535-1)del: comp. het.
p.Arg392Serfs*3: hom
p.Asn52Metfs*29: hom
p.Trp445* + p.Asn52Metfs*29: comp. het.
p.Pro202Leu + p.Asn52Metfs*29: comp. het.
c.1286-3C>G + p.Cys154Phefs*23: comp. het.

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Koentjoro, 2012Family studynone2n.g.n.g.18c.(534+1_535-1)_(871+1_872-1)del + c.(7+1_8-1)_(171+1_172-1)del: comp. het.
Guerrero Camacho, 2012Other / Mixed<4524Hn.g.39 (+/-7)c.(1285+1_1286-1)_(*2679_?)del: hom
c.(412+1_413-1)_(534+1_535-1)del: hom
c.(933+1_934-1)_(1083+1_1084-1)del + c.(412+1_413-1)_(534+1_535-1)del: comp. het.
c.(933+1_934-1)_(*2679_?)del + c.(412+1_413-1)_(534+1_535-1)del: comp. het.
c.(534+1_535-1)_(618+1_619-1)del: hom
c.(933+1_934-1)_(1167+1_1168-1)del + c.(534+1_535-1)_(618+1_619-1)del: comp. het.
c.(933+1_934-1)_(1167+1_1168-1)del + c.(618+1_619-1)_(734+1_735-1)del: comp. het.
c.(1285+1_1286-1)_(*2679_?))del + c.(933+1_934-1)_(1083+1_1084-1)del: comp. het.
c.(933+1_934-1)_(*2679_?)del + c.(7+1_8-1)_(534+1_535-1)del: comp. het.
c.(933+1_934-1)_(1083+1_1084-1)del + c.(171+1_172-1)_(534+1_535-1)del: comp. het.
c.(933+1_934-1)_(1167+1_1168-1)del + c.(171+1_172-1)_(534+1_535-1)del: comp. het.
c.(933+1_934-1)_(*2679_?)del + c.(171+1_172-1)_(534+1_535-1)del: comp. het.
c.(933+1_934-1)_(*2679_?)del + c.(618+1_619-1)_(871+1_872-1)del: comp. het.
c.(1285+1_1286-1)_(*2679_?))del + c.(933+1_934-1)_(1167+1_1168-1)del: comp. het.
c.(1285+1_1286-1)_(*2679_?))del + c.(171+1_172-1)_(933+1_934-1)dup: comp. het.
p.Asn52Metfs*29: hom

Show more (+13)
Ruffmann, 2012Case report / Case seriesnone2n.g.n.g.n.g.c.(171+1_172-1)_(412+1_413-1)del + p.Arg275Trp: comp. het.
Moura, 2012Mutational screen<501n.g.n.g.46c.(171+1_172-1)_(412+1_413-1)dup + c.(534+1_535-1)_(734+1_735-1)del: comp. het.
Funayama, 2012Family studynone1An.g.15c.(171+1_172-1)_(618+1_619-1)del + c.(171+1_172-1)_(871+1_872-1)dup: comp. het.
Haylett, 2012Mutational screennone4C, Dn.g.39 (+/-15)c.(412+1_413-1)_(534+1_535-1)del + p.Gly430Asp: comp. het.
c.(171+1_172-1)_(412+1_413-1)del + p.Pro113Thrfs*51: comp. het.
c.(534+1_535-1)_(618+1_619-1)dup + c.(7+1_8-1)_(734+1_735-1)dup: comp. het.