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. Author manuscript; available in PMC: 2019 Dec 4.
Published in final edited form as: Circulation. 2018 Dec 4;138(23):2666–2681. doi: 10.1161/CIRCULATIONAHA.117.032273

Figure 1. Confirmation of the likely pathogenic VUSMYL3(170C>A) uncovered in an asymptomatic carrier.

Figure 1

(A) Schematic illustration of the nucleotide and amino acid position of the VUS (NM_000258.2:c.170C>A, NP_000249.1:p.Ala57Asp) and two known pathogenic mutations (A57G, E56G) in the MYL3 gene. The red rectangles represent exons 1-7. Asterisks displays VUSMYL3(170C>A) position. Numbers 54-66 annotate amino acids positions. (B) Sanger sequencing confirmation of the VUSMYL3(170C>A). Upper panel: Sequencing result of a healthy control individual, lower panel: sequencing result of the heterozygous VUSMYL3(170C>A) carrier. Nucleotide position of the VUSMYL3(170C>A) is displayed by a framing square. (C) Alignment of regions flanking the VUSMYL3(170C>A) (red font) in MYL3 protein showing evolutionary conservation of the mutated residue across species and isoforms. (D) A prediction score of the VUSMYL3(170C>A) predicted by the in silico tool PolyPhen-2. (E) The VUSMYL3(170C>A) carrier’s ECG recording.