MT-TM:m.4450G>A

Tutor Research

Nomenclaturem.4450G>AchrMT:4450|ClinVar #986440

Typemitochondrial tRNA variant

InheritanceMitochondrial

gnomAD mtDNA

Absent

of 56,430 genomes

MitoTIP

17.6 · Q1 likely pathogenic

PON-mt-tRNA

0.92 · pathogenic

Tutor Research

ClinVarLikely pathogenic

VCV000986440

Review: reviewed by expert panelSubmitters: 2view ↗Last evaluated: 2023/02/27 00:00

Mitochondrial disease[MedGen][Orphanet][MONDO]

MITOMAPLikely pathogenicconfirmed

Live entry

Disease: Myopathy · Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) · Leigh Syndrome

+1 more

· Exercise intolerance (EXIT)

Reported 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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CCCATACCCCGAAAATGTTGGTTATACCCTTCCCGTACTAA

MT-TM · ends m.4469

MT-ND2 · starts m.4470

m.4430–4470 of the revised Cambridge Reference Sequence (NC_012920.1); the boxed base is m.4450 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-TM →

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.4450G>A

Resolving variant against ClinVar, gnomAD and Ensembl…

MT-TM:m.4450G>A

Where it sits in the mitochondrial genome

Population Allele Frequencies

External Resources

MT-TM:m.4450G>A

Where it sits in the mitochondrial genome

Population Allele Frequencies

External Resources