Overview of included studies for PARK-PINK1:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% ♂) 		Mean AAO (+/- SD) Reported mutations
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
c.(776+1_777-1)_(1123+1_1124-1)del: het
p.Leu77Pro : hom
p.Ser73Leu
 Show more (+2) + p.Arg152Trp
+ c.(776+1_777-1)_(959+1_960-1)dup: comp. het.
Bouhouche, 2017 Mutational screen 2 D 100% 48(+/-8) p.Gln456*: hom
p.Leu539Phe: hom
Zech, 2017 Mutational screen 1 C 0% 24 p.Ala339Thr
+ p.Leu249Val: comp. het.
Norman, 2017 Family study 1 D n.a. 29 p.Ala217Asp: hom
Spataro, 2017 Mutational screen 1 C 0% 40 p.Trp90*: hom
Ben, 2016 Family study 1 n.a. 100% 54 p.Leu539Phe: hom
Halder, 2015 Mutational screen 1 n.a. 100% 31 p.Gln267*: hom
Al-Mubarak, 2015 Mutational screen 3 n.a. 67% 50(+/-17) p.Thr313Met: hom
p.Gly409Arg: hom
Steele, 2015 Mutational screen 3 O 33% 50(+/-17) p.Leu347Pro: hom
Siuda, 2014 Family study 2 C 50% 22(+/-8) p.Gln456*: hom
© University of Lübeck. Last updated on Dec. 2, 2020. Version: 3.5.95
$('span[name=cDNA],span[name=Reference],span[name=Protein1],span[name=Alias1]').each(function() { if ($(this).text().length > 15) $(this).text($(this).text().substring(0,15) + '...'); });