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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
Haylett, 2012 Mutational screen 4 n.a. n.a. 39(+/-15) c.(412+1_413-1)_(534+1_535-1)del
+ p.Gly430Asp: comp. het.
c.(171+1_172-1)_(412+1_413-1)del
+ p.Pro113Thrfs*51: comp. het.
c.(7+1_8-1)_(734+1_735-1)dup
+ c.(534+1_535-1)_(618+1_619-1)dup: comp. het.
Hassin-Baer, 2011 Family study 12 B 67% 26(+/-10) p.Gln34Argfs*10: hom
Ghazavi, 2011 Mutational screen 7 n.a. 86% 26(+/-6) p.Arg42Pro
+ p.Cys441Arg: comp. het.
p.Thr240Met
+ c.(412+1_413-1)_(534+1_535-1)del: comp. het.
c.(171+1_172-1)_(412+1_413-1)del: hom
c.(534+1_535-1)_(618+1_619-1)del: hom
c.(534+1_535-1)_(734+1_735-1)del: hom
c.1083+1G>A: hom
Show more (+3)
Yoritaka, 2011 Other/Mixed 5 A 80% 41(+/-14) c.(7+1_8-1)_(171+1_172-1)del: hom
c.(534+1_535-1)_(618+1_619-1)del: hom
c.(7+1_8-1)_(534+1_535-1)del: hom
c.(618+1_619-1)_(871+1_872-1)del: hom
Show more (+1)
Guo, 2011 Mutational screen 9 A 89% 31(+/-7) c.(7+1_8-1)_(171+1_172-1)del: 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: hom
c.(171+1_172-1)_(412+1_413-1)del
+ p.Cys238Alafs*21: comp. het.
c.(412+1_413-1)_(534+1_535-1)del: hom
c.(534+1_535-1)_(618+1_619-1)del: hom
c.8-39T>G
+ c.(618+1_619-1)_(734+1_735-1)del: comp. het.
c.(534+1_535-1)_(618+1_619-1)del
Show more (+5) + c.(7+1_8-1)_(412+1_413-1)del: comp. het.
Kay, 2010 Mutational screen 16 n.a. 69% 32(+/-12) p.Pro113Thrfs*51: hom
c.(7+1_8-1)_(171+1_172-1)del: hom
p.Pro113Thrfs*51
+ c.(7+1_8-1)_(171+1_172-1)del: comp. het.
c.(171+1_172-1)_(412+1_413-1)del: comp. het.
c.(618+1_619-1)_(734+1_735-1)del: comp. het.
c.(412+1_413-1)_(534+1_535-1)del
+ p.Gly430Asp: comp. het.
c.(534+1_535-1)_(618+1_619-1)del: comp. het.
p.Arg275Trp: comp. het.
c.(7+1_8-1)_(412+1_413-1)del
+ c.(7+1_8-1)_(534+1_535-1)dup: comp. het.
c.(171+1_172-1)_(534+1_535-1)del: comp. het.
c.(171+1_172-1)_(412+1_413-1)dup: comp. het.
p.Gln34Argfs*5: comp. het.
c.(7+1_8-1)_(618+1_619-1)dup: comp. het.
Show more (+10)
Pankratz, 2009 Mutational screen 27 n.a. n.a. 41(+/-14) p.Met192Val
+ c.(534+1_535-1)_(618+1_619-1)del: comp. het.
c.(618+1_619-1)_(734+1_735-1)del
+ p.Glu79*: comp. het.
c.(7+1_8-1)_(534+1_535-1)[3]
+ p.Gly430Asp: comp. het.
c.(412+1_413-1)_(534+1_535-1)del
+ c.1083+5G>T
+ p.Arg33Gln: comp. het.
p.Gln34Argfs*5: hom
p.Pro113Thrfs*51: hom
p.Pro113Thrfs*51
+ c.(7+1_8-1)_(412+1_413-1)del: comp. het.
c.(171+1_172-1)_(534+1_535-1)del: comp. het.
c.(412+1_413-1)_(734+1_735-1)del: comp. het.
c.(534+1_535-1)_(734+1_735-1)del
+ p.Thr240Met: comp. het.
p.Pro437Leu: hom
p.Lys211Asn: comp. het.
p.Pro437Leu
+ p.Arg275Trp: comp. het.
c.1083+1delG: comp. het.
c.(871+1_872-1)_(933+1_934-1)del: comp. het.
c.(171+1_172-1)_(534+1_535-1)del: hom
c.(7+1_8-1)_(534+1_535-1)dup
+ c.(412+1_413-1)_(534+1_535-1)dup: comp. het.
p.Asn52Metfs*29: hom
p.Asn52Metfs*29: comp. het.
Show more (+16)
Brooks, 2009 Mutational screen 4 C n.a. 32(+/-7) p.Gln34Argfs*5
+ p.Ala38Valfs*6: comp. het.
p.Arg275Trp
+ p.Gln171*: comp. het.
p.Pro113Thrfs*51: hom
c.(7+1_8-1)_(171+1_172-1)del: comp. het.
Show more (+1)
Amboni, 2009 Case report/Case series 1 n.a. 100% 3 p.Thr240Met
+ c.(7+1_8-1)_(534+1_535-1)del: comp. het.
Macedo, 2009 Mutational screen 5 n.a. 60% 35(+/-12) p.Arg42Pro: hom
c.(171+1_172-1)_(412+1_413-1)del: hom
c.(171+1_172-1)_(412+1_413-1)del
+ p.Arg275Trp: comp. het.
c.(412+1_413-1)_(534+1_535-1)del
+ c.(734+1_735-1)_(871+1_872-1)dup: comp. het.
c.(1083+1_1084-1)_(*2679_?)dup: hom
Show more (+2)