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Overview of included studies for PARK-Parkin:
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carrying
Country
Study Study design N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Periquet, 2003 Mutational screen 9 n.a. 71% 28(+/-12) p.Arg275Trp: hom
c.(7+1_8-1)_(171+1_172-1)del
+ c.(171+1_172-1)_(412+1_413-1)del: comp. het.
c.(171+1_172-1)_(534+1_535-1)del: comp. het.
c.(171+1_172-1)_(412+1_413-1)del: hom
p.Arg275Trp: comp. het.
c.(412+1_413-1)_(534+1_535-1)del: comp. het.
c.(7+1_8-1)_(534+1_535-1)del
+ p.Thr240Met: comp. het.
c.(7+1_8-1)_(534+1_535-1)dup: comp. het.
Show more (+5)
Thobois, 2003 Other/Mixed 18 n.a. 39% 27(+/-9) p.Gln34Argfs*5: hom
p.Trp74Cysfs*8: hom
p.Arg275Trp
+ c.(171+1_172-1)_(412+1_413-1)del: comp. het.
p.Cys289Gly: hom
c.(7+1_8-1)_(171+1_172-1)del: comp. het.
c.(171+1_172-1)_(412+1_413-1)del: hom
p.Met1?
+ c.(412+1_413-1)_(534+1_535-1)del: comp. het.
p.Asn52Metfs*29
+ c.(534+1_535-1)_(618+1_619-1)del: comp. het.
c.(171+1_172-1)_(534+1_535-1)del: comp. het.
c.(871+1_872-1)_(1083+1_1084-1)del: hom
c.(7+1_8-1)_(534+1_535-1)dup: hom
p.Asn52Metfs*29: hom
p.Cys441Arg: comp. het.
Show more (+10)
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)
Rawal, 2003 Mutational screen 11 n.a. n.a. 33(+/-12) p.Trp445*: hom
p.Pro437Leu: het
p.Arg275Trp: hom
c.(412+1_413-1)_(534+1_535-1)del: hom
c.(618+1_619-1)_(734+1_735-1)del
+ p.Asn428Lysfs*141: comp. het.
c.(171+1_172-1)_(534+1_535-1)del: hom
c.(171+1_172-1)_(534+1_535-1)del
+ p.Asn52Metfs*29: comp. het.
c.(171+1_172-1)_(618+1_619-1)del: hom
c.(171+1_172-1)_(734+1_735-1)del: comp. het.
c.(412+1_413-1)_(871+1_872-1)del
Show more (+7) + c.872-1G>C: comp. het.
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
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.(618+1_619-1)_(734+1_735-1)del
+ c.(871+1_872-1)_(933+1_934-1)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.Val56Glu
+ p.Cys212Tyr: 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)
Hedrich, 2002 Mutational screen 3 n.a. n.a. 19(+/-7) c.(412+1_413-1)_(534+1_535-1)del
+ p.Arg42Pro: comp. het.
p.Pro113Thrfs*51
+ p.Arg275Trp: comp. het.
p.Asn52Metfs*29
+ c.(171+1_172-1)_(534+1_535-1)del: comp. het.
Hilker, 2002 Mutational screen 5 n.a. n.a. n.a. p.Val324Alafs*111
+ c.(618+1_619-1)_(734+1_735-1)del: comp. het.
c.(618+1_619-1)_(734+1_735-1)del: hom
p.Val324Alafs*111: hom