MT-TQ:m.4386T>C

Tutor Research

Nomenclaturem.4386T>CchrMT:4386|ClinVar #689903

Typemitochondrial tRNA variant

InheritanceMitochondrial

gnomAD mtDNA

69 hom · 3 het

of 56,429 genomes

MitoTIP

3.1 · Q4 likely benign

PON-mt-tRNA

0.18 · neutral

Tutor Research

ClinVarBenign

VCV000689903

Review: criteria provided, single submitterSubmitters: 1view ↗Last evaluated: 2019/07/12 00:00

MELAS syndrome[OMIM][MedGen][Orphanet][MONDO]

MITOMAPConflicting reports

Live entry

Disease: Heart disease · Myopathy · HypertensionReported as: homoplasmicGenBank: 198 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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AAAATTCTCCGTGCCACCTATCACACCCCATCCTAAAGTAA

MT-TQ (L-strand) · ends m.4400

MT-TM · starts m.4402

m.4366–4406 of the revised Cambridge Reference Sequence (NC_012920.1); the boxed base is m.4386 T→C.

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-TQ →

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.4386T>C

Resolving variant against ClinVar, gnomAD and Ensembl…

MT-TQ:m.4386T>C

Where it sits in the mitochondrial genome

Population Allele Frequencies

External Resources

MT-TQ:m.4386T>C

Where it sits in the mitochondrial genome

Population Allele Frequencies

External Resources