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. Author manuscript; available in PMC: 2019 Apr 1.
Published in final edited form as: Neurobiol Aging. 2017 Dec 20;64:159.e5–159.e8. doi: 10.1016/j.neurobiolaging.2017.12.012

Figure 1. Overview of the SNCA gene on DNA, mRNA and protein level.

Figure 1

The SNCA gene has six exons of which several are non-coding (light-blue). NB the SNCA gene is located on the antisense strand of the human genome. On mRNA level five exons are left totaling 423 nucleotides (NM_000345) which result in a 141-amino acid protein. All six missense mutations are located in exon two and three in relatively close proximity. When comparing pathogenicity algorithm scores (CADD (Quang et al., 2015), GERP (Davydov et al., 2010)) between the six missense variants, His50Gln scores very poor compared to the other five missense mutations.