Overview of included studies for PARK-Parkin:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% ♂) 		Mean AAO (+/- SD) Reported mutations
Ambroziak, 2015 Mutational screen 7 n.a. 50% 29(+/-4) c.172-16728_412+422del
+ p.Cys446Phe: comp. het.
p.Gln34Argfs*5
+ c.172-87670_534+27499del: comp. het.
c.413-4730_871+63575del: comp. het.
c.172-131341_412-33982delinsTTACGTATTAAACAAACATTACATT: comp. het.
c.8-224652_618+32307dupinvAAGATTTins
 Show more (+2) + p.Lys211Asn: comp. het.
Cornejo-Olivas, 2015 Other/Mixed 1 n.a. 0% 15 c.619-1G>A
+ c.(734+1_735-1)_(871+1_872-1)del: comp. het.
Domingos, 2015 Case report/Case series 1 n.a. 100% 37 c.(412+1_413-1)_(534+1_535-1)del: hom
Fiala, 2014 Mutational screen 1 n.a. n.a. n.a. c.(412+1_413-1)_(534+1_535-1)del: hom
c.(7+1_8-1)_(412+1_413-1)del: het
Kim, 2014 Case report/Case series 1 A 100% 10 c.(412+1_413-1)_(534+1_535-1)del: hom
c.(7+1_8-1)_(171+1_172-1)del: het
Chu, 2014 Mutational screen 8 A 38% 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.(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
 Show more (+5) + p.Gln34Argfs*5: comp. het.
Li, 2014 Family study 3 A 67% 33(+/-2) p.Gly284Arg
+ p.Arg275Trp: comp. het.
Karkheiran, 2014 Family study 6 n.a. 83% 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, 2014 Mutational screen 10 H 20% 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.(?_-103-1)_(534+1_535-1)del
+ c.(618+1_619-1)_(*2679_?)del: comp. het.
c.(171+1_172-1)_(534+1_535-1)del
+ c.(933+1_934-1)_(1167+1_1168-1)del: comp. het.
c.(933+1_934-1)_(*2679_?)del: comp. het.
c.(618+1_619-1)_(871+1_872-1)del: comp. het.
c.(1285+1_1286-1)_(*2679_?)dup: comp. het.
 Show more (+7)
Elia, 2014 Other/Mixed 8 n.a. n.a. 29(+/-14) p.Cys212Tyr: hom
p.Lys211Asn
+ p.Pro437Leu: 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: comp. het.
c.(618+1_619-1)_(871+1_872-1)del: comp. het.
c.(?_-103-1)_(7+1_8-1)del: comp. het.
c.(171+1_172-1)_(412+1_413-1)dup
 Show more (+4) + c.(7+1_8-1)_(534+1_535-1)del: comp. het.
© University of Lübeck. Last updated on Dec. 2, 2020. Version: 3.5.95