Please log on to access all functions of the MDSGene database.

Overview of included studies for PARK-Parkin:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Mellick, 2009 Mutational screen 1 n.a. 0% 30 p.Gly430Asp: hom
Sironi, 2008 Other/Mixed 14 n.a. 50% 31(+/-8) c.(171+1_172-1)_(412+1_413-1)dup
+ p.Cys238Trp: comp. het.
p.Glu409*: hom
c.(7+1_8-1)_(171+1_172-1)dup
+ p.Thr240Met: comp. het.
p.Cys253Tyr: hom
c.(534+1_535-1)_(734+1_735-1)del
+ p.Arg275Trp: comp. het.
c.(171+1_172-1)_(412+1_413-1)del: hom
c.(171+1_172-1)_(412+1_413-1)del: comp. het.
c.(618+1_619-1)_(734+1_735-1)del
+ p.Arg42Pro: comp. het.
c.(171+1_172-1)_(534+1_535-1)del: hom
Show more (+6)
Aguiar, 2008 Mutational screen 4 n.a. n.a. 26(+/-12) c.1286-3C>G: hom
p.Lys211Asn: hom
c.(171+1_172-1)_(412+1_413-1)del: het
Moro, 2008 Mutational screen 5 n.a. 40% 28(+/-11) p.Gln34Argfs*10: hom
c.(871+1_872-1)_(933+1_934-1)dup
+ c.(7+1_8-1)_(618+1_619-1)del: comp. het.
c.(171+1_172-1)_(534+1_535-1)del: hom
c.(734+1_735-1)_(1083+1_1084-1)del: hom
Show more (+1)
Chung, 2008 Other/Mixed 1 n.a. 100% 16 c.(?_-103-1)_(534+1_535-1)del
+ c.(171+1_172-1)_(412+1_413-1)del: comp. het.
Chan, 2008 Mutational screen 3 A 0% 27(+/-9) p.Asp460Glyfs*8
+ c.(734+1_735-1)_(871+1_872-1)del: comp. het.
c.(618+1_619-1)_(734+1_735-1)del: hom
Deng, 2008 Family study 2 C 50% 39(+/-1) c.(171+1_172-1)_(534+1_535-1)del
+ c.(171+1_172-1)_(412+1_413-1)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.
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.Val56Glu
+ p.Cys212Tyr: comp. het.