TABLE 1.
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.