Overview of included studies for PARK-Parkin (PARK2):
Filter for
carrying
Study Study design Age restriction N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Al-Mubarak, 2015 Mutational screen none 7 n.g. 71 34 (+/-12) c.(171+50347)_(413-21490)del + p.Thr240Met: comp. het.;
c.(735-74079)_(871+19735)del: hom;
c.(171+53980)_(534+4116)del: hom;
c.(172-70365)_(413-16061)del: hom;
p.Gln178*: hom

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Guo, 2015 Mutational screen none 7 A n.g. n.g. c.(7+1_8-1)_(171+1_172-1)del + c.(171+1_172-1)_(412+1_413-1)del: comp. het.;
c.(7+1_8-1)_(171+1_172-1)del + c.(412+1_413-1)_(534+1_535-1)del: comp. het.;
c.(1167+1_1168-1)_(1285+1_1286-1)del + c.(1285+1_1286-1)_(*2699_?)del: comp. het.;
c.(171+1_172-1)_(534+1_535-1)del: hom;
c.(412+1_413-1)_(618+1_619-1)del + c.(618+1_619-1)_(871+1_872-1)del: comp. het.;
c.(534+1_535-1)_(734+1_735-1)del + c.(7+1_8-1)_(534+1_534-1)del: comp. het.;
c.(?_-103)_(7+1_8-2)del + c.(7+1_8-1)_(618+1_619-1)del: comp. het.

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Tijero, 2015 Mutational screen none 14 n.g. 50 n.g. p.Asn52Metfs*29: hom;
p.Asn52Metfs*29 + p.Cys352Tyr: comp. het.;
c.(412+1_413-1)_(534+1_534-1)del + p.Gln34Argfs*5: comp. het.;
p.Asp18Valfs*26 + c.(?_-103)_(7+1_8-1)del: comp. het.;
c.(412+1_413-1)_(534+1_535-1)del + c.(171+1_172-1)_(534+1_535-1)del: comp. het.

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Ambroziak, 2015 Mutational screen none 7 n.g. 50 29 (+/-4) c.(413-4730)_(871+63575)del + c.(172-131341)_(412-33982)delinsAATGTAATGTTTGTTTAATACGTAA: comp. het.;
c.(413-4730)_(871+63575)del + p.Gln34Argfs*5: comp. het.;
p.Gln34Argfs*5 + c.(172-87670)_(534+27499)del: comp. het.;
c.(8-224652)_(618+32307)dupinvAAGATTTins + p.Lys211Asn: comp. het.;
p.Cys446Phe + c.(172-16728)_(412+422)del: comp. het.

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Cornejo-Olivas, 2015 Other / Mixed none 1 n.g. 0 15 c.619-1G>A + c.(734+1_735-1)_(871+1_872-1)del: comp. het.
Fiala, 2014 Mutational screen <40 1 n.g. n.g. n.g. c.(412+1_413-1)_(534+1_534-1)del + c.(7+1_8-1)_(412+1_413-1)del: comp. het.
Kim, 2014 Case report / Case series none 1 n.g. 100 10 c.(412+1_413-1)_(534+1_535-1)del + c.(7+1_8-1)_(171+1_172-1)del: comp. het.
Chu, 2014 Mutational screen <55 9 A 44 25 (+/-14) c.(171+1_172-1)_(412+1_413-1)del + c.(7+1_8-1)_(171+1_172-1)del: comp. het.;
c.(171+1_172-1)_(412+1_413-1)del + c.(?_-103)_(534+1_535-1)del: comp. het.;
c.(412+1_413-1)_(534+1_534-1)del: hom;
c.(412+1_413-1)_(534+1_534-1)del + c.(7+1_8-1)_(171+1_172-1)del: 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.(734+1_735-1)_(1167+1_1168-1)del + c.(871+1_872-1)_(1167+1_1168-1)del: comp. het.;
c.(734+1_735-1)_(871+1_872-1)dup + p.Gln34Argfs*5: comp. het.;
p.Leu226Phefs*8 + p.Gly284Arg: comp. het.

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Li, 2014 Family study none 3 n.g. 67 33 (+/-2) p.Arg275Trp + p.Gly284Arg: comp. het.
Karkheiran, 2014 Family study none 6 n.g. 83 22 (+/-6) c.(171+1_172-1)_(412+1_413-1)tri + c.(933+1_934-1)_(1083+1_1084-1)del: comp. het.;
c.(534+1_535-1)_(618+1_619-1)del: hom