Overview of included studies for PARK-PRKN:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% ♂) 		Mean AAO (+/- SD) Reported mutations
Oliveira, 2003 Other/Mixed 15 n.a. n.a. 36(+/-12) p.Gln34Argfs*5: hom
p.Pro113Thrfs*51: hom
p.Pro113Thrfs*51
+ p.Gly430Asp: comp. het.
p.Arg275Trp
+ p.Pro437Leu: comp. het.
p.Cys253Tyr: comp. het.
 Show more (+2)
Kim, 2003 Family study 2 A 0% 41(+/-4) c.(412+1_413-1)_(534+1_535-1)del: hom
Rawal, 2003 Mutational screen 7 n.a. n.a. 32(+/-14) p.Pro437Leu: het
p.Arg275Trp: hom
c.(412+1_413-1)_(534+1_535-1)del: hom
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)_(734+1_735-1)del: comp. het.
 Show more (+3)
Kobayashi, 2003 Family study 3 A 67% 20(+/-2) c.(171+1_172-1)_(412+1_413-1)del: hom
Morales, 2002 Case report/Case series 3 n.a. 100% n.a. p.Cys212Tyr
+ p.Val56Glu: comp. het.
Muñoz, 2002 Mutational screen 6 n.a. 17% 33(+/-5) c.(534+1_535-1)_(734+1_735-1)del: hom
p.Asn52Metfs*29: hom
Khan, 2002 Family study 4 n.a. 75% 30(+/-2) c.618+2T>A
+ c.(871+1_872-1)_(933+1_934-1)del: comp. het.
Wu, 2002 Family study 3 A 33% 28(+/-8) c.(171+1_172-1)_(412+1_413-1)del
+ c.(412+1_413-1)_(534+1_535-1)del: comp. het.
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.(871+1_872-1)_(933+1_934-1)del
+ c.(618+1_619-1)_(734+1_735-1)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 10 n.a. 80% 31(+/-3) p.Val56Glu
+ p.Cys212Tyr: comp. het.
c.(171+1_172-1)_(412+1_413-1)del: hom
p.Asn52Metfs*29: hom
© University of Lübeck. Last updated on Dec. 2, 2020. Version: 3.5.95