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Table 2 Mendelian mutations in familial parkinsonism

From: Genetics and genomics of Parkinson’s disease

Gene Mutation(s) OMIM Reference(s)
Dominantly inherited, late onset parkinsonism with Lewy pathology   
SNCA Locus multiplication and missense mutations: A30P, E46K, H50Q, G51N, A53T 168601, 605543 [56, 58]
LRRK2 R1437H, R1441H, R1441G, R1441C, Y1699C, G2019S, I2020T 607060 [20, 31, 32]
VPS35 D620N 614203 [63, 64]
EIF4G1 R1205H 614251 [149]
DNAJC13 N855S 614334 [93]
Recessively inherited, early-onset or X-linked atypical parkinsonism
PARK2 (Parkin) Numerous exon deletions, duplications and missense mutations 600116 [109]
PINK1 Rare locus and exon deletions. Numerous missense mutations, including E129X, Q129fsX157, P196L, G309N W437X, G440E, Q456X 605909 [147, 151]
DJ-1 Deletions and missense: dup168-185, A39S, E64D, D149A, Q163L, L166P, M261I. 606324 [123]
DNAJC6 Splice site c.801 -2 A > G and truncating mutation Q734X 615528 [70]
ATP13A2 Missense: L552fsX788, M810R, G877R, G1019fsX1021. Small insertions and deletions: 1103insGA, del2742TT 606693 [102]
FBXO7 T22M, R378G, R498X 260300 [68]
PLA2G6 D331Y, R635Q,R741Q, R747W 612953 [152]
ATP6AP2 Splice site mutations   [71]
SYNJ1 Homozygous missense: R258Q 615530 [72]
  1. OMIM, Online Mendelian Inheritance in Man, a database that catalogs all the known diseases with a genetic component.