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Overview of included studies for PARK-Parkin:
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Country
Study Study design N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Elfferich, 2011 Mutational screen 12 n.a. 43% 35(+/-12) c.8-61987_171+4006del
+ c.172-5243_412+18307del: comp. het.
c.734+61166_871+2877dupinsTGCAATT
+ c.8-48180_171+84346del: comp. het.
p.Gln34Argfs*5
+ c.172-4427_413-6108del: comp. het.
p.Arg275Trp: comp. het.
c.413-26603_534+367del27092ins28: comp. het.
c.534+17825_735-64158del: comp. het.
c.171+11347_618+17328del395200
+ c.1-17782_7+123791del: comp. het.
c.8-51502_172-33560dupinsT: comp. het.
Show more (+5)
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.Cys441Arg
+ p.Arg42Pro: 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)
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
p.Cys238Alafs*21
+ c.(171+1_172-1)_(412+1_413-1)del: 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.(618+1_619-1)_(734+1_735-1)del
+ c.8-39T>G: 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.
Zhang, 2010 Mutational screen 9 A 33% 24(+/-10) c.(7+1_8-1)_(171+1_172-1)del
+ c.(618+1_619-1)_(734+1_735-1)del: comp. het.
c.(734+1_735-1)_(1083+1_1084-1)del: comp. het.
c.(171+1_172-1)_(412+1_413-1)del
+ p.Met1?: comp. het.
p.Gly284Arg: comp. het.
c.(412+1_413-1)_(534+1_535-1)del: hom
c.(171+1_172-1)_(534+1_535-1)del: hom
c.(734+1_735-1)_(871+1_872-1)del
+ c.(171+1_172-1)_(534+1_535-1)del: comp. het.
c.(412+1_413-1)_(534+1_535-1)dup: hom
Show more (+5)
Limousin, 2009 Other/Mixed 11 n.a. 27% 27(+/-9) c.(171+1_172-1)_(412+1_413-1)del: hom
c.(412+1_413-1)_(534+1_535-1)del
+ c.(171+1_172-1)_(412+1_413-1)del: comp. het.
c.(534+1_535-1)_(618+1_619-1)del
+ p.Asn52Metfs*29: comp. het.
p.Cys441Arg: comp. het.
c.(171+1_172-1)_(534+1_535-1)del
+ p.Arg275Trp: comp. het.
c.(?_-103-1)_(7+1_8-1)del: comp. het.
c.(618+1_619-1)_(734+1_735-1)dup: comp. het.
Show more (+4)
Pankratz, 2009 Mutational screen 27 n.a. n.a. 41(+/-14) c.(534+1_535-1)_(618+1_619-1)del
+ p.Met192Val: comp. het.
p.Glu79*
+ c.(618+1_619-1)_(734+1_735-1)del: comp. het.
p.Gly430Asp
+ c.(7+1_8-1)_(534+1_535-1)[3]: 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.
p.Thr240Met
+ c.(534+1_535-1)_(734+1_735-1)del: 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.(412+1_413-1)_(534+1_535-1)dup
+ c.(7+1_8-1)_(534+1_535-1)dup: comp. het.
p.Asn52Metfs*29: hom
p.Asn52Metfs*29: comp. het.
Show more (+16)
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)
Reetz, 2009 Other/Mixed 6 n.a. 83% 40(+/-17) p.Val324Alafs*111: hom
p.Val324Alafs*111
+ c.(734+1_735-1)_(871+1_872-1)del: comp. het.
c.(412+1_413-1)_(534+1_535-1)del
+ p.Arg275Trp: comp. het.
c.(734+1_735-1)_(871+1_872-1)del: hom
c.(171+1_172-1)_(534+1_535-1)del
Show more (+2) + c.(933+1_934-1)_(1083+1_1084-1)del: comp. het.