Viewing single variant in MT-CO2

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

MT-CO2:m.8241T>G (p.Phe219Cys)

Tutor Research

Nomenclaturem.8241T>Gp.Phe219CyschrMT:8241|Not in ClinVar

TypeMissense

InheritanceMitochondrial

gnomAD mtDNA

Absent

~56k genomes

SIFT

deleterious_low_confidence (0)

PolyPhen

probably_damaging (0.999)

ESM1b

-6.92

Tutor Research

MITOMAPConflicting reports

Live entry

Disease: Maternally inherited diabetes and deafness (MIDD)+retinopathyReported as: heteroplasmicGenBank: 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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ATTAATTCCCCTAAAAATCTTTGAAATAGGGCCCGTATTTA

MT-CO2

m.8221–8261 of the revised Cambridge Reference Sequence (NC_012920.1); the boxed base is m.8241 T→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-CO2 →

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.8241T>G

Resolving variant against ClinVar, gnomAD and Ensembl…

MT-CO2:m.8241T>G (p.Phe219Cys)

Where it sits in the mitochondrial genome

Lollipop Plot — Protein Context & Regional Constraint

Population Allele Frequencies

Mechanism of Pathogenicity

External Resources

MT-CO2:m.8241T>G (p.Phe219Cys)

Where it sits in the mitochondrial genome

Lollipop Plot — Protein Context & Regional Constraint

Population Allele Frequencies

Mechanism of Pathogenicity

External Resources