Overview of included studies for PARK-Parkin:
Filter for
carrying
Study Study design Age restriction N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Sammler, 2009Case report / Case seriesnone1n.g.n.g.24p.Pro113Thrfs*51 + c.(171+1_172-1)_(534+1_535-1)del: comp. het.
Limousin, 2009Other / Mixednone11n.g.n.g.27 (+/-9)c.(171+1_172-1)_(412+1_413-1)del: hom
c.(412+1_413-1)_(534+1_535-1)del + c.(171+1_172-1)_(412+1_413-1)del: comp. het.
p.Asn52Metfs*29 + c.(534+1_535-1)_(618+1_619-1)del: comp. het.
p.Cys441Arg + c.(534+1_535-1)_(618+1_619-1)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.(?_-103-1)_(7+1_8-1)del: comp. het.
p.Asn52Metfs*29 + c.(618+1_619-1)_(734+1_735-1)dup: comp. het.

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Pankratz, 2009Mutational screennone27C, H, Dn.g.41 (+/-14)c.(534+1_535-1)_(618+1_619-1)del + p.Met192Val: comp. het.
c.(618+1_619-1)_(734+1_735-1)del + p.Glu79*: comp. het.
c.(7+1_8-1)_(534+1_535-1)[3] + p.Gly430Asp: comp. het.
c.(412+1_413-1)_(534+1_535-1)del + c.1083+5G>T + p.Arg33Gln: 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 + p.Pro113Thrfs*51: comp. het.
c.(412+1_413-1)_(734+1_735-1)del + p.Pro113Thrfs*51: comp. het.
c.(534+1_535-1)_(734+1_735-1)del + p.Thr240Met: comp. het.
p.Pro437Leu: hom
c.(7+1_8-1)_(412+1_413-1)del + p.Lys211Asn: comp. het.
p.Pro437Leu + p.Arg275Trp: comp. het.
c.(171+1_172-1)_(534+1_535-1)del + p.Arg275Trp: comp. het.
c.1083+1delG + p.Arg275Trp: comp. het.
c.(871+1_872-1)_(933+1_934-1)del + c.(618+1_619-1)_(734+1_735-1)del: comp. het.
c.(171+1_172-1)_(534+1_535-1)del + c.(7+1_8-1)_(412+1_413-1)del: comp. het.
c.(171+1_172-1)_(534+1_535-1)del: hom
c.(7+1_8-1)_(534+1_535-1)dup + c.(412+1_413-1)_(534+1_535-1)dup: comp. het.
p.Asn52Metfs*29: hom
c.(7+1_8-1)_(412+1_413-1)del + p.Asn52Metfs*29: comp. het.

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Brooks, 2009Mutational screennone4Cn.g.32 (+/-7)p.Gln34Argfs*5 + p.Ala38Valfs*6: comp. het.
p.Arg275Trp + p.Gln171*: comp. het.
p.Pro113Thrfs*51: hom
p.Gln34Argfs*5 + c.(7+1_8-1)_(171+1_172-1)del: comp. het.
Camargos, 2009Mutational screennone2n.g.n.g.31 (+/-13)p.Thr240Met + p.Asn52Metfs*29: comp. het.
c.(534+1_535-1)_(618+1_619-1)dup + p.Pro281Arg: comp. het.
Lee, 2009Mutational screen<492n.g.n.g.27 (+/-5)p.Cys441Arg + c.(412+1_413-1)_(534+1_535-1)del: comp. het.
Amboni, 2009Case report / Case seriesnone1n.g.n.g.3c.(7+1_8-1)_(534+1_535-1)del + p.Thr240Met: comp. het.
Macedo, 2009Mutational screen<505n.g.n.g.35 (+/-12)p.Arg42Pro: hom
c.(171+1_172-1)_(412+1_413-1)del: hom
p.Arg275Trp + c.(171+1_172-1)_(412+1_413-1)del: comp. het.
c.(734+1_735-1)_(871+1_872-1)dup + c.(412+1_413-1)_(534+1_535-1)del: comp. het.
c.(1083+1_1084-1)_(*2679_?)dup: hom

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Infante, 2009Family studynone4n.g.n.g.30p.Trp445*: hom
Reetz, 2009Other / Mixednone6n.g.n.g.40 (+/-17)p.Val324Alafs*111: hom
c.(734+1_735-1)_(871+1_872-1)del + p.Val324Alafs*111: comp. het.
p.Arg275Trp + c.(412+1_413-1)_(534+1_535-1)del: comp. het.
c.(734+1_735-1)_(871+1_872-1)del: hom
c.(933+1_934-1)_(1083+1_1084-1)del + c.(734+1_735-1)_(871+1_872-1)del + c.(171+1_172-1)_(534+1_535-1)del: comp. het.

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