Overview of included studies for PARK-PRKN:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% ♂) 		Mean AAO (+/- SD) Reported mutations
Kunishige, 2004 Case report/Case series 2 A 50% 34(+/-21) c.(171+1_172-1)_(534+1_535-1)del: hom
Hedrich, 2004 Mutational screen 3 n.a. 33% 25(+/-9) p.Arg275Trp: hom
c.(534+1_535-1)_(618+1_619-1)del
+ p.Arg275Trp: comp. het.
p.Pro113Thrfs*51
+ p.Asn52Metfs*29: comp. het.
Lincoln, 2003 Mutational screen 7 n.a. 86% 59(+/-11) p.Gln34Argfs*5: hom
p.Arg275Trp: hom
p.Arg275Trp
+ c.(412+1_413-1)_(534+1_535-1)del: comp. het.
c.(171+1_172-1)_(412+1_413-1)del: hom
 Show more (+1)
Lohmann, 2003 Mutational screen 6 n.a. n.a. 24(+/-6) p.Gln34Argfs*5: hom
c.(171+1_172-1)_(412+1_413-1)del
+ c.(734+1_735-1)_(871+1_872-1)dup: comp. het.
c.(171+1_172-1)_(734+1_735-1)del
+ p.Arg275Trp: comp. het.
c.(534+1_535-1)_(734+1_735-1)del: hom
c.(618+1_619-1)_(734+1_735-1)dup
+ p.Asn52Metfs*29: comp. het.
p.Asn52Metfs*29: hom
 Show more (+3)
Illarioshkin, 2003 Family study 2 n.a. 50% 20(+/-4) p.Gln34Argfs*5
+ c.7+1G>A: comp. het.
c.(171+1_172-1)_(412+1_413-1)del
+ c.(734+1_735-1)_(871+1_872-1)del: comp. het.
Gouider-Khouja, 2003 Family study 3 n.a. 33% 26(+/-7) p.Gln34Argfs*5: hom
Lincoln, 2003 Other/Mixed 7 n.a. 71% 28(+/-8) p.Pro113Thrfs*51: hom
p.Arg275Trp
+ p.Pro113Thrfs*51: comp. het.
c.(171+1_172-1)_(412+1_413-1)dup: comp. het.
Khan, 2003 Other/Mixed 8 n.a. 75% 23(+/-8) c.(171+1_172-1)_(412+1_413-1)del
+ p.Gly430Asp: comp. het.
p.Gln34Argfs*5: hom
p.Cys268*
+ p.Gln34Argfs*5: comp. het.
p.Arg275Trp: comp. het.
c.(534+1_535-1)_(734+1_735-1)del: comp. het.
c.(412+1_413-1)_(534+1_535-1)del: comp. het.
 Show more (+3)
Periquet, 2003 Mutational screen 9 n.a. 71% 28(+/-12) p.Arg275Trp: hom
c.(171+1_172-1)_(412+1_413-1)del
+ c.(7+1_8-1)_(171+1_172-1)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 17 n.a. 41% 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.
c.(534+1_535-1)_(618+1_619-1)del
+ p.Asn52Metfs*29: 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
p.Asn52Metfs*29: hom
p.Cys441Arg: comp. het.
 Show more (+9)
© University of Lübeck. Last updated on Dec. 2, 2020. Version: 3.5.95