Disease: Possible helper mutation in maternally inherited hypertension and in Leber hereditary optic neuropathy (LHON)Reported as: homoplasmicGenBank: 700 sequences

MITOMAP (mitomap.org), CC BY 3.0 · disease table as of 2026-10-07

Where it sits in the mitochondrial genome

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proteinrRNAtRNAouter ring H-strand · inner L-strandMITOMAP confirmedreported (as of 2026-10-07)

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AACAGCTAAGGACTGCAAAACCCCACTCTGCATCAACTGAA

MT-TA (L-strand) · starts m.5587

m.5581–5621 of the revised Cambridge Reference Sequence (NC_012920.1); the boxed base is m.5601 C→T.

37 genes from Ensembl (rCRS numbering, matched to MITOMAP’s Gene Loci); landmarks and disease alleles from MITOMAP (CC BY 3.0). Circular layout after MitoWheel.