Overview of included studies for PARK-Parkin:
Filter for
carrying
Study Study design Age restriction N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Kim, 2014Case report / Case seriesnone1An.g.10c.(412+1_413-1)_(534+1_535-1)del: hom
c.(7+1_8-1)_(171+1_172-1)del: het
Chu, 2014Mutational screen<558An.g.23 (+/-14)p.Leu226Phefs*8 + p.Gly284Arg: comp. het.
c.(1083+1_1084-1)_(1167+1_1168-1)del: hom
c.(1167+1_1168-1)_(1285+1_1286-1)del: hom
c.(412+1_413-1)_(534+1_535-1)del + c.(7+1_8-1)_(171+1_172-1)del: comp. het.
c.(?_-103-1)_(534+1_535-1)del + c.(171+1_172-1)_(412+1_413-1)del: comp. het.
c.(412+1_413-1)_(534+1_535-1)del: hom
c.(871+1_872-1)_(1167+1_1168-1)del + c.(734+1_735-1)_(1167+1_1168-1)del: comp. het.
p.Gln34Argfs*5 + c.(734+1_735-1)_(871+1_872-1)dup: comp. het.

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Li, 2014Family studynone3An.g.33 (+/-2)p.Gly284Arg + p.Arg275Trp: comp. het.
Karkheiran, 2014Family studynone6n.g.n.g.22 (+/-6)c.(534+1_535-1)_(618+1_619-1)del: hom
c.(933+1_934-1)_(1083+1_1084-1)del: het
c.(171+1_172-1)_(412+1_413-1)[3]: hom
Monroy-Jaramillo, 2014Mutational screen<4510Hn.g.37 (+/-6)c.(1083+1_1084-1)_(1167+1_1168-1)del: hom
c.(1285+1_1286-1)_(*2679_?)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.(1083+1_1084-1)_(*2679_?)del + c.(734+1_735-1)_(871+1_872-1)del: comp. het.
c.(933+1_934-1)_(1083+1_1084-1)del: hom
c.(618+1_619-1)_(*2679_?)del + c.(?_-103-1)_(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)_(1167+1_1168-1)del + c.(618+1_619-1)_(871+1_872-1)del: comp. het.
c.(1285+1_1286-1)_(*2679_?)dup + c.(933+1_934-1)_(1167+1_1168-1)del: comp. het.

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Elia, 2014Other / Mixednone8n.g.n.g.29 (+/-14)p.Cys212Tyr: hom
p.Pro437Leu + p.Lys211Asn: comp. het.
c.(171+1_172-1)_(412+1_413-1)del + p.Arg275Trp: comp. het.
c.(171+1_172-1)_(534+1_535-1)del + p.Arg275Trp: comp. het.
c.(618+1_619-1)_(871+1_872-1)del + p.Arg275Trp: comp. het.
c.(?_-103-1)_(7+1_8-1)del + p.Arg275Trp: comp. het.
c.(171+1_172-1)_(412+1_413-1)dup + c.(7+1_8-1)_(534+1_535-1)del: comp. het.

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Sharp, 2014Case report / Case seriesnone3Cn.g.n.g.p.Pro113Thrfs*51 + c.(171+1_172-1)_(534+1_535-1)del: comp. het.
Koziorowski, 2013Mutational screen<455n.g.n.g.30 (+/-5)p.Gln34Argfs*5: hom
c.(412+1_413-1)_(871+1_872-1)del + c.(171+1_172-1)_(412+1_413-1)del: comp. het.
p.Gln34Argfs*5 + c.(171+1_172-1)_(534+1_535-1)del: comp. het.
p.Gln34Argfs*5 + c.(412+1_413-1)_(871+1_872-1)del: comp. het.
p.Lys211Asn + c.(7+1_8-1)_(618+1_619-1)dup: comp. het.

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Darvish, 2013Mutational screennone38B, On.g.25 (+/-5)c.(7+1_8-1)_(171+1_172-1)del: hom
c.(7+1_8-1)_(412+1_413-1)del + c.(7+1_8-1)_(171+1_172-1)del: comp. het.
c.(7+1_8-1)_(534+1_535-1)del + c.(7+1_8-1)_(171+1_172-1)del: comp. het.
c.(171+1_172-1)_(412+1_413-1)del: hom
c.(7+1_8-1)_(*2679_?)del: hom
c.(?_-103-1)_(534+1_535-1)del + c.(7+1_8-1)_(412+1_413-1)del: comp. het.
c.(171+1_172-1)_(412+1_413-1)del + c.(7+1_8-1)_(534+1_535-1)del: comp. het.
c.(7+1_8-1)_(534+1_535-1)del + c.(7+1_8-1)_(618+1_619-1)del: comp. het.
c.(171+1_172-1)_(618+1_619-1)del: hom

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Angeli, 2013Mutational screennone5n.g.n.g.24 (+/-11)p.Arg275Trp + p.Gly430Asp: comp. het.
p.Gln34Argfs*5: hom
p.Arg156Serfs*29 + p.Pro113Thrfs*51: comp. het.
c.(618+1_619-1)_(734+1_735-1)dup + p.Arg275Trp: comp. het.
c.(171+1_172-1)_(534+1_535-1)del: hom

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