Overview of included studies for PARK-PRKN:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% ♂) 		Mean AAO (+/- SD) Reported mutations
Chu, 2014 Mutational screen 4 A 50% 22(+/-9) 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
p.Gln34Argfs*5
 Show more (+1) + c.(734+1_735-1)_(871+1_872-1)dup: comp. het.
Li, 2014 Family study 3 A 67% 33(+/-2) p.Arg275Trp
+ p.Gly284Arg: comp. het.
Karkheiran, 2014 Family study 5 n.a. 80% 23(+/-5) c.(171+1_172-1)_(412+1_413-1)[3]: hom
c.(933+1_934-1)_(1083+1_1084-1)del: het
Monroy-Jaramillo, 2014 Mutational screen 5 H 20% 36(+/-8) c.(412+1_413-1)_(534+1_535-1)del
+ c.(933+1_934-1)_(1083+1_1084-1)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.(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.
 Show more (+2)
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.
Sharp, 2014 Case report/Case series 3 C n.a. n.a. p.Pro113Thrfs*51
+ c.(171+1_172-1)_(534+1_535-1)del: comp. het.
Koziorowski, 2013 Mutational screen 5 n.a. 20% 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.
c.(7+1_8-1)_(618+1_619-1)dup
 Show more (+1) + p.Lys211Asn: comp. het.
Darvish, 2013 Mutational screen 33 n.a. n.a. 25(+/-5) c.(7+1_8-1)_(171+1_172-1)del: hom
c.(7+1_8-1)_(171+1_172-1)del
+ c.(7+1_8-1)_(412+1_413-1)del: comp. het.
c.(7+1_8-1)_(534+1_535-1)del: comp. het.
c.(171+1_172-1)_(412+1_413-1)del: hom
c.(?_-103-1)_(534+1_535-1)del: comp. het.
c.(171+1_172-1)_(412+1_413-1)del: comp. het.
c.(7+1_8-1)_(618+1_619-1)del: comp. het.
 Show more (+4)
Angeli, 2013 Mutational screen 5 n.a. n.a. 24(+/-11) p.Gly430Asp
+ p.Arg275Trp: comp. het.
p.Gln34Argfs*5: hom
p.Arg156Serfs*29
+ p.Pro113Thrfs*51: comp. het.
c.(618+1_619-1)_(734+1_735-1)dup: comp. het.
c.(171+1_172-1)_(534+1_535-1)del: hom
 Show more (+2)
Wang, 2013 Mutational screen 4 C n.a. 27(+/-12) c.(734+1_735-1)_(1083+1_1084-1)del
+ c.(7+1_8-1)_(171+1_172-1)del: comp. het.
c.(412+1_413-1)_(534+1_535-1)del: hom
c.(7+1_8-1)_(534+1_535-1)del
+ c.(618+1_619-1)_(734+1_735-1)del: comp. het.
© University of Lübeck. Last updated on Dec. 2, 2020. Version: 3.5.95