MT-TN

Chr MT

tRNA-Asn

Also known as: MTTN

NCBI Gene: 4570 ENSG00000210135 OMIM: 590010

This gene encodes mitochondrial tRNA for asparagine, which is essential for protein synthesis within mitochondria and proper functioning of the oxidative phosphorylation system. Mutations cause mitochondrial myopathy, optic neuropathy, and encephalopathy with variable clinical severity depending on heteroplasmy levels. Inheritance follows a maternal pattern since the gene resides in the mitochondrial genome.

OMIM ResearchSummary from Curated mito context

Predicted to enable triplet codon-amino acid adaptor activity. Predicted to be involved in translation. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Gene–disease validity (ClinGen)

Definitive · mitochondrial disease · MT · ClinGen 2022

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

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Mechanism

Nuclear-gene analyses omitted

MT-TN is a mitochondrial tRNA gene. gnomAD constraint, carrier burden and exome coverage, the ClinVar type breakdown, the protein lollipop, AlphaFold and transcript-architecture views are built for nuclear genes and are not shown. Population data for mtDNA variants (gnomAD v3.1, homoplasmy and heteroplasmy) is on each variant page.

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)

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.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

MITOMAP Disease Variants — MT-TN

Live table ↗

Variant	Disease	Status	GenBank seqs
m.5658T>C	Mitochondrial myopathy	Reported	0
m.5667G>A	Ptosis / CPEO	Uncertain significance · reported	0
m.5669G>A	Sporadic CPEO	Reported	0
m.5670A>G	Progressive mitochondrial myopathy	Reported	1
m.5672T>C	EXIT+myalgia+CPEO with RRF	Reported	0
m.5690A>G	CPEO+ptosis+proximal myopathy	Likely pathogenic · confirmed	0
m.5692T>C	CPEO / MM	Uncertain significance · reported	1
m.5693T>C	Encephalomyopathy	Reported	0
m.5698G>A	CPEO / MM	Reported	1
m.5702A>-	Sporadic CPEO	Reported	0
m.5702A>G	External ophthalmoplegia+ptosis	Uncertain significance · reported	0
m.5703G>A	CPEO / MM	Pathogenic · confirmed	1
m.5708C>T	Mitochondrial myopathy	Reported	0
m.5709T>C	Ophthalmoparesis+respiratory impairment	Reported	0
m.5715A>G	Hearing loss patient	Reported	15
m.5728T>C	Multiorgan failure / myopathy / myasthenia gravis-like	Likely pathogenic · confirmed	0