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
Oliveira, 2003 Other/Mixed 17 n.a. n.a. 33(+/-13) c.1083+5G>T
+ p.Arg33Gln: comp. het.
p.Gln34Argfs*5: hom
p.Pro113Thrfs*51: hom
p.Gly430Asp
+ p.Pro113Thrfs*51: comp. het.
p.Arg275Trp
+ p.Pro437Leu: comp. het.
p.Cys253Tyr: comp. het.
Show more (+3)
Morales, 2002 Case report/Case series 3 n.a. 100% n.a. p.Cys212Tyr
+ p.Val56Glu: comp. het.
Muñoz, 2002 Mutational screen 7 n.a. 14% 31(+/-7) p.Ala291Leufs*6: hom
c.(534+1_535-1)_(734+1_735-1)del: hom
p.Asn52Metfs*29: hom
Khan, 2002 Family study 4 n.a. 75% 30(+/-2) c.(871+1_872-1)_(933+1_934-1)del
+ c.618+2T>A: comp. het.
Wu, 2002 Family study 3 A 33% 28(+/-8) c.(171+1_172-1)_(412+1_413-1)del
+ c.(412+1_413-1)_(534+1_535-1)del: comp. het.
Nichols, 2002 Sib pair study 23 n.a. n.a. 38(+/-8) c.(412+1_413-1)_(734+1_735-1)del
+ p.Pro113Thrfs*51: comp. het.
p.Lys211Asn
+ c.(7+1_8-1)_(412+1_413-1)dup: comp. het.
p.Pro437Leu
+ p.Arg275Trp: comp. het.
c.(171+1_172-1)_(534+1_535-1)del: comp. het.
c.(7+1_8-1)_(534+1_535-1)del
+ c.(171+1_172-1)_(412+1_413-1)del: comp. het.
c.(871+1_872-1)_(933+1_934-1)del
+ c.(618+1_619-1)_(734+1_735-1)del: comp. het.
c.(171+1_172-1)_(534+1_535-1)del: hom
p.Asn52Metfs*29: hom
Show more (+5)
Hoenicka, 2002 Family study 11 n.a. 73% 31(+/-3) p.Cys212Tyr
+ p.Val56Glu: comp. het.
c.(171+1_172-1)_(412+1_413-1)del: hom
c.(534+1_535-1)_(618+1_619-1)del: hom
p.Asn52Metfs*29: hom
Show more (+1)
Hilker, 2002 Mutational screen 5 n.a. n.a. n.a. c.(618+1_619-1)_(734+1_735-1)del
+ p.Val324Alafs*111: comp. het.
p.Val324Alafs*111: hom
c.(618+1_619-1)_(734+1_735-1)del: hom
Pramstaller, 2002 Other/Mixed 1 n.a. 0% 29 c.(734+1_735-1)_(871+1_872-1)dup
+ p.Arg275Trp: comp. het.
Bonifati, 2001 Other/Mixed 2 n.a. 50% 33(+/-3) c.(171+1_172-1)_(1083+1_1084-1)del
+ c.(534+1_535-1)_(618+1_619-1)del: comp. het.
c.(171+1_172-1)_(412+1_413-1)dup: comp. het.