Overview of included studies for PARK-Parkin:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% ♂) 		Mean AAO (+/- SD) Reported mutations
Deng, 2008 Family study 2 C 50% 39(+/-1) c.(171+1_172-1)_(412+1_413-1)del
+ c.(171+1_172-1)_(534+1_535-1)del: comp. het.
Lesage, 2008 Mutational screen 6 C 67% 18(+/-4) p.Cys289Gly: hom
c.(7+1_8-1)_(171+1_172-1)del
+ p.Gln34Argfs*5: comp. het.
c.(171+1_172-1)_(412+1_413-1)del: comp. het.
p.Arg75Glufs*22: comp. het.
p.Asn52Metfs*29
+ c.(171+1_172-1)_(534+1_535-1)del: comp. het.
c.(171+1_172-1)_(734+1_735-1)del
 Show more (+3) + p.Arg275Trp: comp. het.
Deng, 2007 Other/Mixed 2 n.a. 0% 32(+/-6) c.(171+1_172-1)_(734+1_735-1)del
+ c.(534+1_535-1)_(618+1_619-1)del: comp. het.
Pellecchia, 2007 Family study 2 n.a. 50% 32(+/-6) p.Arg42Pro: hom
Lesage, 2007 Mutational screen 1 C 0% 28 c.(?_-103-1)_(7+1_8-1)del: hom
Pineda-Trujillo, 2006 Mutational screen 5 n.a. 80% 28(+/-5) p.Cys212Tyr: hom
p.Cys212Tyr
+ p.Val56Glu: comp. het.
Gaig, 2006 Other/Mixed 1 n.a. 100% 44 c.(7+1_8-1)_(171+1_172-1)del: hom
Chung, 2006 Mutational screen 3 A n.a. 23(+/-14) c.(734+1_735-1)_(871+1_872-1)del
+ c.(7+1_8-1)_(171+1_172-1)del: comp. het.
c.(1167+1_1168-1)_(1285+1_1286-1)dup: comp. het.
c.(171+1_172-1)_(412+1_413-1)del: comp. het.
Biswas, 2006 Mutational screen 2 n.a. 0% 31(+/-0) c.(171+1_172-1)_(534+1_535-1)del: hom
Sun, 2006 Family study 24 n.a. n.a. 39(+/-13) p.Gly430Asp: hom
p.Pro437Leu
+ p.Gly430Asp
+ p.Pro113Thrfs*51: comp. het.
c.(7+1_8-1)_(171+1_172-1)del: hom
p.Arg275Trp
+ c.(171+1_172-1)_(412+1_413-1)del: comp. het.
p.Asn52Metfs*29: comp. het.
p.Cys253Tyr
+ c.(7+1_8-1)_(534+1_535-1)del: comp. het.
c.(412+1_413-1)_(534+1_535-1)del: comp. het.
c.(734+1_735-1)_(933+1_934-1)del: comp. het.
c.(618+1_619-1)_(933+1_934-1)dup: hom
c.(1285+1_1286-1)_(*2679_?)dup: het
c.(?_-103-1)_(7+1_8-1)dup: hom
c.(?_-103-1)_(7+1_8-1)dup
 Show more (+9) + c.(933+1_934-1)_(1083+1_1084-1)dup: comp. het.
© University of Lübeck. Last updated on Dec. 2, 2020. Version: 3.5.95