Overview of included studies for PARK-Parkin:
Filter for
carrying
Study Study design Age restriction N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Ben-Shachar, 2017Family studynone9Bn.g.34 (+/-8)p.Cys332*: hom
p.Pro37Leu: hom
p.Gln34Argfs*10: hom
p.Gln34Argfs*10 + c.(412+1_413-1)_(534+1_535-1)del: comp. het.
c.(412+1_413-1)_(534+1_535-1)del: hom

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Uchihara, 2017Case report / Case seriesnone1n.g.n.g.33c.(412+1_413-1)_(534+1_535-1)del + c.(7+1_8-1)_(171+1_172-1)del: comp. het.
Isaacs, 2017Sib pair studynone1n.g.n.g.12p.Pro113Thrfs*51 + c.(534+1_535-1)_(734+1_735-1)del: comp. het.
Taghavi, 2017Mutational screennone40n.g.n.g.25 (+/-9)c.535-104014_618+24033delTGAGTGATGCCTins: hom
c.(171+1_172-1)_(412+1_413-1)del: hom
c.(534+1_535-1)_(734+1_735-1)del: hom
c.(534+1_535-1)_(618+1_619-1)del: hom
c.(171+1_172-1)_(534+1_535-1)del: hom
c.(412+1_413-1)_(534+1_535-1)del: hom
c.(618+1_619-1)_(734+1_735-1)del: hom
p.Thr414Profs*20: hom
p.Arg42Pro: hom
c.(171+1_172-1)_(871+1_872-1)del: hom
c.(534+1_535-1)_(871+1_872-1)del: hom
c.(933+1_934-1)_(1083+1_1084-1)del: hom

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Spataro, 2017Mutational screennone7Cn.g.41 (+/-15)c.8-54_171+49del: hom
c.(171+1_172-1)_(534+1_535-1)del: hom
c.(171+1_172-1)_(534+1_535-1)del + p.Asn52Metfs*29: comp. het.
c.172-50_734+49del + p.Gln34Argfs*5: comp. het.
c.8-54_534+49del + p.Asn52Metfs*29: comp. het.
p.Asn52Metfs*29 + p.Thr415Asn: comp. het.
c.172-50_412+113dup: hom

Show more (+4)
De Rosa, 2017Other / Mixednone4Cn.g.33 (+/-11)p.Cys253Tyr + c.(534+1_535-1)_(618+1_619-1)del: comp. het.
c.(7+1_8-1)_(412+1_413-1)del + c.(7+1_8-1)_(171+1_172-1)del: comp. het.
c.(171+1_172-1)_(534+1_535-1)del: hom
Sato, 2016Case report / Case seriesnone2An.g.38 (+/-7)c.(171+1_172-1)_(412+1_413-1)del: hom
Morais, 2016Mutational screennone39Cn.g.30 (+/-11)p.Arg275Trp: hom
p.Arg42Pro: hom
p.Arg42Pro + c.8-51491_172-56018del: comp. het.
p.Arg275Trp + c.413-16409_534+27042delinsATGCCTGTAA: comp. het.
p.Arg366Gln + c.413-10504_534+408delins20: comp. het.
c.1084-3859_1167+1618del: hom
c.413-3460_534+30928del: hom
c.413-27055_534+20428del: hom
c.171+67708_734+58232delins28: hom
c.413-18966_871+72957delinsA: hom
c.534+457_734+41025del: hom
p.Asn52Metfs*29: hom
p.Asn52Metfs*29 + c.8-23204_172-3140del: comp. het.
p.Asn52Metfs*29 + c.172-11910_413-22473delinsAT: comp. het.
p.Asn52Metfs*29 + c.412+25822_535-71707delinsTGA: comp. het.
p.Asn52Metfs*29 + c.172-16570_734+51279del: comp. het.
p.Asn52Metfs*29 + c.412+2768_734+92226del: comp. het.
p.Asn52Metfs*29 + c.735-21670_1083+48265delinsATG: comp. het.
p.Asn52Metfs*29 + p.Arg275Trp: comp. het.
p.Glu344Serfs*91 + c.1286-3C>G: comp. het.
p.Leu358Argfs*77: hom
p.Thr415Asn + c.172-52958_734+8943del: comp. het.

Show more (+19)
Chen, 2016Family studynone2An.g.15 (+/-10)p.Gly284Arg: hom
Anderson-Mooney, 2016Case report / Case seriesnone2n.g.n.g.n.g.p.Arg275Trp + p.Cys253Tyr: comp. het.