Xiromerisiou G, Hadjigeorgiou GM, Gourbali V, Johnson J, Papakonstantinou I, Papadimitriou A, Singleton AB. Screening for SNCA and LRRK2 mutations in Greek sporadic and autosomal dominant Parkinson's disease: identification of two novel LRRK2 variants. Eur J Neurol 14: 7-11, 2007 (PubMed ID: 17222106)

Mutations

LRRK2: (Ala211Val) (Lys544Glu) (Gly2019Ser)

ID: 126

Nuytemans K, Meeus B, Crosiers D, Brouwers N, Goossens D, Engelborghs S, Pals P, Pickut B, Van den Broeck M, Corsmit E, Cras P, De Deyn PP, Del-Favero J, Van Broeckhoven C, Theuns J. Relative contributions of simple mutations versus copy number variations in five Parkinson disease genes in the Belgian population. Hum Mutat Epub: , 2009 (PubMed ID: 19405094)

Mutations

SNCA: (dupSNCA [N]) (IVS2+9A>C)
LRRK2: (Leu119Pro) (Ala211Val) (Val366Met) (Ala419Val) (Arg506Gln) (Ile1006Met) (IVS30-6C>T) (Arg1514Gln) (Pro1542Ser) (Met1646Thr) (Gly2385Arg) (Glu2490fs)
PARK2: (ex2dup (breakpoints not mapped)) (ex2-3dup (breakpoints not mapped)) (ex2-12dup (breakpoints not mapped)) (ex3dup (breakpoints not mapped)) (ex3-4dup (breakpoints not mapped)) (ex3-6del (breakpoints not mapped)) (ex6del (breakpoints not mapped)) (ex6dup (breakpoints not mapped)) (Ser10Asn) (Pro37Leu) (Asn52fs) (Ala82Glu) (Met192Leu) (Arg256Cys) (His265Arg) (Asn273Ser) (Arg275Trp) (IVS7-3C>G) (IVS9-1G>A) (Arg402Cys) (Pro437Leu)
PINK1: (Met342Ile)
PARK7: (Lys175Glu) (Ala179Thr)

ID: 25