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Figure 1 | BMC Medical Genetics

Figure 1

From: Mitochondrial DNA variant m.15218A > G in Finnish epilepsy patients who have maternal relatives with epilepsy, sensorineural hearing impairment or diabetes mellitus

Figure 1

Phylogenetic network based on mtDNA coding region sequences in 79 patients with epilepsy and with a maternal history of epilepsy, SNHI or diabetes mellitus. Nodes represent patients. Inside the nodes, patients are identified by numbers 1-79. Outgroup is an African sequence [GenBank: AF346980]; CRS is the revised Cambridge Reference Sequence [GenBank: NC_012920]. Unless marked otherwise, mtDNA variants are transitions. Superscripts indicate transversions and novel mutations. @ = back mutation, * = heteroplasmic mutation, followed by patient number in parenthesis if required. D9bp = deletion spanning the positions m.8281 and m.8289. Nonsynonymous variants are in red font, underlined red variants were concordantly predicted to be pathogenic by PolyPhen-2, PMut and SIFT BLink analyses.

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BMC Medical Genetics

ISSN: 1471-2350

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