Overview of included studies for PARK-PRKN:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% ♂) 		Mean AAO (+/- SD) Reported mutations
Oczkowska, 2015 Mutational screen 1 n.a. n.a. n.a. p.Glu310Asp
+ p.Arg275Trp: comp. het.
Al-Mubarak, 2015 Mutational screen 6 n.a. 83% 34(+/-13) c.171+50347_413-21490del
+ p.Thr240Met: comp. het.
c.172-70365_413-16061del: hom
c.735-74079_871+19735del: hom
c.171+53980_534+4116del: hom
 Show more (+1)
Guo, 2015 Mutational screen 5 A n.a. n.a. c.(171+1_172-1)_(412+1_413-1)del
+ c.(7+1_8-1)_(171+1_172-1)del: comp. het.
c.(412+1_413-1)_(534+1_535-1)del: comp. het.
c.(7+1_8-1)_(534+1_535-1)del
+ c.(534+1_535-1)_(734+1_735-1)del: comp. het.
c.(171+1_172-1)_(534+1_535-1)del: hom
c.(?_-103-1)_(7+1_8-1)del
 Show more (+2) + c.(7+1_8-1)_(618+1_619-1)del: comp. het.
Tijero, 2015 Mutational screen 14 n.a. 50% n.a. c.(412+1_413-1)_(534+1_535-1)del
+ p.Gln34Argfs*5: comp. het.
p.Asp18Valfs*26
+ c.(?_-103-1)_(7+1_8-1)del: comp. het.
c.(171+1_172-1)_(534+1_535-1)del: comp. het.
p.Asn52Metfs*29: hom
p.Cys352Tyr: het
 Show more (+2)
Moll, 2015 Case report/Case series 1 C 0% 35 c.(?_-103-1)_(7+1_8-1)del
+ p.Arg275Trp: comp. het.
Ambroziak, 2015 Mutational screen 7 n.a. 50% 29(+/-4) c.172-16728_412+422del
+ p.Cys446Phe: comp. het.
p.Gln34Argfs*5
+ c.172-87670_534+27499del: comp. het.
c.413-4730_871+63575del: comp. het.
c.172-131341_412-33982delinsTTACGTATTAAACAAACATTACATT: comp. het.
c.8-224652_618+32307dupinvAAGATTTins
 Show more (+2) + p.Lys211Asn: comp. het.
Cornejo-Olivas, 2015 Other/Mixed 1 n.a. 0% 15 c.619-1G>A
+ c.(734+1_735-1)_(871+1_872-1)del: comp. het.
Domingos, 2015 Case report/Case series 1 n.a. 100% 37 c.(412+1_413-1)_(534+1_535-1)del: hom
Fiala, 2014 Mutational screen 1 n.a. n.a. n.a. c.(412+1_413-1)_(534+1_535-1)del: hom
c.(7+1_8-1)_(412+1_413-1)del: het
Kim, 2014 Case report/Case series 1 A 100% 10 c.(7+1_8-1)_(171+1_172-1)del: het
c.(412+1_413-1)_(534+1_535-1)del: hom
© University of Lübeck. Last updated on Dec. 2, 2020. Version: 3.5.95