Overview of included studies for PARK-PINK1:
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carrying
Study Study design Age restriction N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Norman, 2017Family studynone1Dn.g.29p.Ala217Asp: hom
Taghavi, 2017Mutational screennone6n.g.n.g.28 (+/-9)p.Arg246*: hom
Spataro, 2017Mutational screennone1Cn.g.40p.Trp90*: hom
Ben El Haj, 2016Family studynone1n.g.n.g.54p.Leu539Phe: hom
Halder, 2015Mutational screennone1n.g.n.g.31p.Gln267*: hom
Al-Mubarak, 2015Mutational screennone3n.g.n.g.50 (+/-17)p.Thr313Met: hom
p.Gly409Arg: hom
Steele, 2015Mutational screennone3On.g.50 (+/-17)p.Leu347Pro: hom
Siuda, 2014Family studynone2Cn.g.22 (+/-8)p.Gln456*: hom
Monroy-Jaramillo, 2014Mutational screen<459On.g.30 (+/-8)c.(?_-94)_(387+1_388-1)del: hom
c.(387+1_388-1)_(675+1_676-1)del + c.(776+1_777-1)_(1123+1_1124-1)del: comp. het.
c.(387+1_388-1)_(675+1_676-1)dup + c.(959+1_960-1)_(1123+1_1124-1)dup: comp. het.
p.Tyr444Metfs*39: hom
p.Cys92Alafs*15: hom

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Koziorowski, 2013Mutational screen<451Cn.g.n.g.p.Ile368Asn: hom
Darvish, 2013Mutational screennone7On.g.25c.(387+1_388-1)_(675+1_676-1)del + c.(387+1_388-1)_(959+1_960-1)del: comp. het.
c.(776+1_777-1)_(959+1_960-1)del: hom
c.(959+1_960-1)_(1123+1_1124-1)del: hom
Kilarski, 2012Mutational screen<441An.g.29p.Leu347Pro: hom
Lohmann, 2012Other / Mixednone3n.g.n.g.40 (+/-10)p.Leu31*: hom
p.Pro416Leu: hom
Scornaienchi, 2012Mutational screennone3n.g.n.g.41 (+/-13)p.Gln126Pro: hom
p.Trp437*: hom
p.Gln456*: hom
Samaranch, 2010Family studynone6n.g.n.g.30 (+/-10)p.Leu485_Arg497del: hom
p.Glu417_Arg497del + p.Leu485_Arg497del: comp. het.
Keyser, 2010Mutational screen<503In.g.43 (+/-5)p.Tyr258*: hom
Cazeneuve, 2009Family studynone3n.g.n.g.16 (+/-5)deletions of PINK1 exons 4-8 + 88bp insertion in DDOST intron 2: hom
Camargos, 2009Mutational screennone1n.g.n.g.24c.(1251+1_1252-1)_(1488+1_1489-1)del: hom
Myhre, 2008Family studynone4n.g.n.g.30 (+/-7)p.Pro416Arg: hom
p.Ser419Pro: hom
Guo, 2008Other / Mixednone4An.g.26 (+/-10)p.Thr313Met: hom
p.Arg492*: hom
Choi, 2008Mutational screen<501An.g.n.g.p.Asn367Ser + p.Asn521Ilefs*2: comp. het.
Kumazawa, 2008Mutational screennone5n.g.n.g.34 (+/-20)p.Thr313Met: hom
p.Cys388Arg: hom
p.Trp437Arg: hom
p.Asp297Metfs*22: hom
Moro, 2008Mutational screen<451n.g.n.g.31p.Val170Gly: hom
Savettieri, 2008Family studynone2n.g.n.g.29 (+/-1)p.Asp297Metfs*22: hom
Gelmetti, 2008Case report / Case seriesnone1n.g.n.g.67p.Ala244Gly + p.Val317Ile: comp. het.
Prestel, 2008Family studynone2n.g.n.g.38 (+/-3)p.Gln126Pro: hom
Weng, 2007Mutational screen<402An.g.19 (+/-1)p.Arg492* + p.Gln239*: comp. het.
p.Arg492*: hom
Marongiu, 2007Family studynone1n.g.n.g.38c.1252-2_1272del + c.(?_-94)_(*820_?)del: comp. het.
Doostzadeh, 2007Mutational screennone1n.g.n.g.30p.Leu347Pro: hom
Chishti, 2006Other / Mixednone2Bn.g.32 (+/-3)p.Thr313Met: hom
Leutenegger, 2006Family studynone5Bn.g.13 (+/-2)p.Ala217Asp: hom
Hedrich, 2006Family studynone4Cn.g.50 (+/-9)p.Gln456*: hom
Criscuolo, 2006Other / Mixednone1n.g.n.g.22p.Trp437*: hom
Zadikoff, 2006Case report / Case seriesnone1n.g.n.g.37p.Gln456*: hom
Tan, 2006Mutational screen<552n.g.n.g.38 (+/-19)p.Arg246*: hom
p.Tyr258*: hom
Ibáñez, 2006Other / Mixed<6012C, A, Dn.g.35 (+/-8)p.Gln456*: hom
p.Gln456* + p.Cys125Gly: comp. het.
p.Glu240Lys: hom
p.Arg492* + p.Leu369Pro: comp. het.
p.Gly386Ala: hom
p.Gly409Val: hom
p.Lys520Argfs*3: hom
p.Cys549Trpfs*5 + p.Lys24Glyfs*31: comp. het.

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Bonifati, 2005Mutational screen<503n.g.n.g.32 (+/-3)p.Ala168Pro: hom
p.Trp437*: hom
p.Gln456*: hom
Klein, 2005Mutational screen<512n.g.n.g.41 (+/-12)p.Ser284= + p.Arg279His: comp. het.
p.Gln534_Ser535insGln: hom
Albanese, 2005Case report / Case seriesnone1n.g.n.g.39p.Ala168Pro: hom
Li, 2005Family studynone3n.g.n.g.40 (+/-3)p.Cys388Arg: hom
c.1123+1247_*881del: hom
Rogaeva, 2004Mutational screennone2n.g.n.g.30p.Leu489Pro + p.Glu240Lys: comp. het.
p.Leu347Pro: hom
Rohé, 2004Family studynone1n.g.n.g.28p.Asp525Valfs*38: hom
Hatano, 2004Family studynone10A, O, n.g.n.g.27 (+/-5)p.Arg246*: hom
p.Arg492* + p.Gln239*: comp. het.
p.His271Gln: hom
p.Leu347Pro: hom
p.Glu417Gly: hom

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Valente, 2004Mutational screen<502n.g.n.g.38 (+/-1)p.Arg464His + p.Cys92Phe: comp. het.
p.Ala168Pro: hom
Valente, 2004Family studynone9C, n.g.n.g.36 (+/-8)p.Gly309Asp: hom
p.Trp437*: hom