Viewing single variant in MT-TI

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

MT-TI:m.4282G>A

Tutor Research

Nomenclaturem.4282G>AchrMT:4282|Not in ClinVar

Typemitochondrial tRNA variant

InheritanceMitochondrial

gnomAD mtDNA

Absent

of 56,432 genomes

MitoTIP

17.3 · Q1 likely pathogenic

PON-mt-tRNA

0.92 · pathogenic

Tutor Research

MITOMAPReported

Live entry

Disease: Chronic progressive external ophthalmoplegia (CPEO) PlusReported 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)

||||

AAGAAATATGTCTGATAAAAGAGTTACTTTGATAGAGTAAA

MT-ND1 · ends m.4262

MT-TI · starts m.4263

m.4262–4302 of the revised Cambridge Reference Sequence (NC_012920.1); the boxed base is m.4282 G→A.

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-TI →

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.4282G>A

Resolving variant against ClinVar, gnomAD and Ensembl…

MT-TI:m.4282G>A

Where it sits in the mitochondrial genome

Population Allele Frequencies

External Resources

MT-TI:m.4282G>A

Where it sits in the mitochondrial genome

Population Allele Frequencies

External Resources