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. 2010 Aug 20;5(8):e12295. doi: 10.1371/journal.pone.0012295

Figure 3. Novel, potential mtDNA mutation 7501T>C detected by 454 sequencing.

Figure 3

A. Case 5 pedigree. Circles represent females and squares represent males; solid shapes are affected individuals; an arrow indicates the proband that died from sudden cardiac death (SCD). B. 454 sequencing. Shown are representative 454 data flowgrams. We obtained 298 total unique reads, 54 reads had the 7501T>C variant (top) and 244 reads had the reference sequence (bottom). C. Sanger sequencing. Retrospective analysis of Sanger data revealed the missed variant. As shown in the chromatogram, two peaks are found at position 7501 consistent with a low level of heteroplasmy.