Viewing single variant in MT-CO1

Uncertain Significance (VUS)Not in ClinVar or MITOMAP — mtDNA classification needs case-level review

MT-CO1:m.6474A>G (p.Thr191Ala)

Tutor Research

Nomenclaturem.6474A>Gp.Thr191AlachrMT:6474|Not in ClinVar

TypeMissense

InheritanceMitochondrial

gnomAD mtDNA

Absent

of 56,432 genomes

SIFT

deleterious_low_confidence (0)

PolyPhen

probably_damaging (0.992)

ESM1b

-12.33

Tutor Research

MITOMAPReported

Live entry

Disease: Maternally inherited childhood epilepsy and ataxiaReported as: homoplasmicGenBank: 0 sequences

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

Where it sits in the mitochondrial genome

Tap or hover a gene, landmark or tick; genes open their page, ticks their variant.

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

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TCGTCTGATCCGTCCTAATCACAGCAGTCCTACTTCTCCTA

MT-CO1

m.6454–6494 of the revised Cambridge Reference Sequence (NC_012920.1); the boxed base is m.6474 A→G.

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.

Open Research Assistant for MT-CO1 →

External Resources

Franklin (Genoox)

AI-powered curation

MITOMAP

mtDNA variant database · expect a security check

VarSome

Variant interpretation · expect a security check

OMIM

Gene & phenotype

gnomAD

mtDNA frequencies (v3.1)

UCSC Browser

Genome browser

m.6474A>G

Resolving variant against ClinVar, gnomAD and Ensembl…

MT-CO1:m.6474A>G (p.Thr191Ala)

Where it sits in the mitochondrial genome

Lollipop Plot — Protein Context & Regional Constraint

Population Allele Frequencies

Mechanism of Pathogenicity

External Resources

MT-CO1:m.6474A>G (p.Thr191Ala)

Where it sits in the mitochondrial genome

Lollipop Plot — Protein Context & Regional Constraint

Population Allele Frequencies

Mechanism of Pathogenicity

External Resources