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. 2023 Jan 10;16:1081426. doi: 10.3389/fncel.2022.1081426

TABLE 1.

SNCA single nucleotide variants linked to PD pathogenesis.

Mutation Protein domain Inheritance References
A30P Amphipathic Autosomal dominant Krüger et al., 1998
E46K Amphipathic Autosomal dominant Zarranz et al., 2003
H50Q Amphipathic Autosomal dominant Kiely et al., 2015
G51D Amphipathic Autosomal dominant Proukakis et al., 2013; Kiely et al., 2015
A53T/E Amphipathic Autosomal dominant Polymeropoulos et al., 1997; Pasanen et al., 2014

There are five identified missense mutations in SNCA that are rare, autosomal dominant inherited forms of Parkinson’s disease.