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. Author manuscript; available in PMC: 2019 Apr 1.
Published in final edited form as: Clin Genet. 2017 May 18;93(4):741–751. doi: 10.1111/cge.13036

Figure 1.

Figure 1

Nav1.8 voltage gated sodium channel encoding SCN10A gene domains, long QT associated mutations and conservation analysis. (A) SCN10A gene is comprised of 27 exons located on the short arm of chromosome 3. The enhancer-binding domain encompasses exons 17, 18 and the intronic region in between. The mutations are labelled along the gene with the corresponding dbSNP (rs) number when available. (B) Several of the mutations fall within the transmembrane alpha helical domains (G810fs, R1259Q, and R1268Q), the R14L is in the N-terminal domain, and the P1877fs is in the C-terminal domain. The two mutations in the patients who were on QT prolonging medications are labelled in orange, the R209H in proximity to the voltage sensing domain and R485C within the channel modulation domain. All the mutation occurred at evolutionarily conserved site.