Overview of included studies for PARK-PINK1:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Tan, 2019 Mutational screen 2 O n.a. 40(+/-7) c.(?_-94)_(387+1_388-1)del
+ p.Trp90*: comp. het.
c.(959+1_960-1)_(1123+1_1124-1)del: hom
Wang, 2018 Family study 1 A 100% 28 p.Lys520Argfs*3: hom
Russ, 2018 Other/Mixed 1 n.a. 100% 36 p.Gln456*: hom
Schormair, 2018 Mutational screen 1 C 0% 20 p.Arg492*: hom
Gustavsson, 2017 Mutational screen 4 C 0% 41(+/-8) p.His360Arg
+ c.(776+1_777-1)_(1123+1_1124-1)del: comp. het.
c.(776+1_777-1)_(1123+1_1124-1)del: hom
p.Leu77Pro: hom
c.(776+1_777-1)_(1123+1_1124-1)del: het
c.(776+1_777-1)_(959+1_960-1)dup
Show more (+2) + p.Arg152Trp
+ p.Ser73Leu: comp. het.
Bouhouche, 2017 Other/Mixed 2 D 100% 48(+/-8) p.Gln456*: hom
p.Leu539Phe: hom
Zech, 2017 Mutational screen 1 C 0% 24 p.Leu249Val
+ p.Ala339Thr: comp. het.
Norman, 2017 Family study 1 D n.a. 29 p.Ala217Asp: hom
Taghavi, 2017 Mutational screen 6 n.a. 33% 28(+/-9) p.Arg246*: hom
Spataro, 2017 Mutational screen 1 C 0% 40 p.Trp90*: hom