Overview of included studies for PARK-PRKN:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% ♂) 		Mean AAO (+/- SD) Reported mutations
Guo, 2008 Other/Mixed 18 A n.a. 25(+/-5) c.(7+1_8-1)_(171+1_172-1)del
+ p.Cys323_Val324del: comp. het.
c.(412+1_413-1)_(534+1_535-1)del
+ p.Gln34Argfs*5: comp. het.
c.(171+1_172-1)_(412+1_413-1)del: hom
p.Cys253Phe
+ c.(171+1_172-1)_(412+1_413-1)del: comp. het.
c.(412+1_413-1)_(534+1_535-1)del: het
p.Cys441Arg: comp. het.
c.(412+1_413-1)_(534+1_535-1)del: hom
c.(171+1_172-1)_(534+1_535-1)del: hom
 Show more (+5)
Choi, 2008 Mutational screen 2 A n.a. 19(+/-8) c.(412+1_413-1)_(534+1_535-1)del
+ c.(7+1_8-1)_(171+1_172-1)del: comp. het.
c.(412+1_413-1)_(534+1_535-1)del: hom
Funayama, 2008 Other/Mixed 2 A 50% 18(+/-0) p.Cys441Arg
+ p.Ala138Glyfs*7: comp. het.
Sironi, 2008 Other/Mixed 9 n.a. 44% 28(+/-7) p.Glu409*: hom
p.Cys253Tyr: hom
p.Arg275Trp
+ c.(534+1_535-1)_(734+1_735-1)del: comp. het.
c.(171+1_172-1)_(412+1_413-1)del: hom
c.(171+1_172-1)_(412+1_413-1)del: comp. het.
c.(618+1_619-1)_(734+1_735-1)del
+ p.Arg42Pro: comp. het.
c.(171+1_172-1)_(534+1_535-1)del: hom
 Show more (+4)
Aguiar, 2008 Mutational screen 1 n.a. n.a. 13 c.(171+1_172-1)_(412+1_413-1)del: het
p.Lys211Asn: hom
Moro, 2008 Mutational screen 4 n.a. 50% 25(+/-10) p.Gln34Argfs*10: hom
c.(171+1_172-1)_(534+1_535-1)del: hom
c.(734+1_735-1)_(1083+1_1084-1)del: hom
Kobayashi, 2008 Sib pair study 2 A 50% 38(+/-0) c.(412+1_413-1)_(534+1_535-1)del: hom
Chung, 2008 Other/Mixed 1 n.a. 100% 16 c.(?_-103-1)_(534+1_535-1)del
+ c.(171+1_172-1)_(412+1_413-1)del: comp. het.
Bras, 2008 Mutational screen 4 C n.a. 30(+/-7) c.(7+1_8-1)_(171+1_172-1)del
+ c.(534+1_535-1)_(618+1_619-1)dup: comp. het.
p.Asn52Metfs*29: hom
Chan, 2008 Mutational screen 2 A 0% 26(+/-13) c.(734+1_735-1)_(871+1_872-1)del
+ p.Asp460Glyfs*8: comp. het.
© University of Lübeck. Last updated on Dec. 2, 2020. Version: 3.5.95