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Overview of included studies for PARK-Parkin:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Lesage, 2008 Mutational screen 6 C 67% 18(+/-4) p.Cys289Gly: hom
p.Gln34Argfs*5
+ c.(7+1_8-1)_(171+1_172-1)del: comp. het.
c.(171+1_172-1)_(412+1_413-1)del: comp. het.
p.Arg75Glufs*22: comp. het.
c.(171+1_172-1)_(534+1_535-1)del
+ p.Asn52Metfs*29: comp. het.
p.Arg275Trp
Show more (+3) + c.(171+1_172-1)_(734+1_735-1)del: comp. het.
Pellecchia, 2007 Family study 2 n.a. 50% 32(+/-6) p.Arg42Pro: hom
Pineda-Trujillo, 2006 Mutational screen 5 n.a. 80% 28(+/-5) p.Cys212Tyr: hom
p.Cys212Tyr
+ p.Val56Glu: comp. het.
Sun, 2006 Family study 24 n.a. n.a. 39(+/-13) p.Gly430Asp: hom
p.Pro437Leu
+ p.Pro113Thrfs*51
+ p.Gly430Asp: 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.
c.(7+1_8-1)_(534+1_535-1)del
+ p.Cys253Tyr: 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.
Hertz, 2006 Mutational screen 2 n.a. 0% 33(+/-4) p.Arg234Gln
+ p.Arg33Gln: comp. het.
c.(1167+1_1168-1)_(1285+1_1286-1)del: hom
Clark, 2006 Mutational screen 1 C n.a. 38 p.Pro113Thrfs*51: hom
Madegowda, 2005 Mutational screen 3 I 33% 39(+/-6) p.Thr240Met: hom
c.(871+1_872-1)_(1083+1_1084-1)del: hom
Ohsawa, 2005 Other/Mixed 9 A 44% 37(+/-11) c.(7+1_8-1)_(171+1_172-1)del: hom
c.(171+1_172-1)_(412+1_413-1)del: hom
c.(171+1_172-1)_(534+1_535-1)del: hom
Poorkaj, 2005 Mutational screen 2 n.a. 0% 12(+/-5) c.(171+1_172-1)_(412+1_413-1)del
+ p.Pro113Thrfs*51: comp. het.
Bertoli-Avella, 2005 Other/Mixed 22 n.a. n.a. 27(+/-9) c.(171+1_172-1)_(534+1_535-1)del
+ c.(7+1_8-1)_(171+1_172-1)del: comp. het.
c.(171+1_172-1)_(412+1_413-1)del: hom
c.(171+1_172-1)_(412+1_413-1)del
+ p.Thr415Asn: comp. het.
p.Cys418Arg: comp. het.
c.535-49422_619-12906del: hom
c.(618+1_619-1)_(734+1_735-1)del: hom
c.(618+1_619-1)_(734+1_735-1)del
+ p.Arg42Pro: comp. het.
c.(871+1_872-1)_(933+1_934-1)del: hom
c.(7+1_8-1)_(412+1_413-1)del: hom
c.1286-3C>G: comp. het.
c.(534+1_535-1)_(734+1_735-1)del: hom
c.(618+1_619-1)_(871+1_872-1)del: hom
c.872-60873_1167+2393del: hom
Show more (+10)