MT-TR

Chr MT

tRNA-Arg

Also known as: MTTR

NCBI Gene: 4573 ENSG00000210174 OMIM: 590005

This gene encodes mitochondrial tRNA for arginine, which is essential for mitochondrial protein synthesis and oxidative phosphorylation. Mutations cause mitochondrial encephalomyopathy with variable clinical severity depending on heteroplasmy levels. Inheritance is maternal through mitochondrial DNA.

GeneReviews OMIM ResearchSummary from Curated mito context

GeneReviews OMIM ResearchGenerating clinical summary…

Clinical highlights

Gene–disease validity (ClinGen)

Moderate · mitochondrial disease · MT · ClinGen 2025

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

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GeneReview available — MT-TR

Authoritative clinical overview · Recommended first read

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Nuclear-gene analyses omitted

MT-TR 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

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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-TR

Live table ↗

Variant	Disease	Status	GenBank seqs
m.10406G>A	Mitochondrial myopathy	Uncertain significance · reported	0
m.10407G>A	MERRF patient	Reported	0
m.10408T>C	Unspecified patient from clinical lab	Uncertain significance · reported	0
m.10410T>C	Possible maternally inherited hypertension risk factor	Reported	295
m.10411A>T	Dilated Cardiomyopathy	Reported	0
m.10415T>C	Dilated Cardiomyopathy	Reported	0
m.10437G>A	Mitochondrial myopathy	Reported	0
m.10438A>G	Progressive Encephalopathy	Uncertain significance · reported	0
m.10438A>T	Non-dystrophic myopathy	Reported	0
m.10450A>G	Combined OXPHOS defects & severe multisystem disorder	Uncertain significance · reported	0
m.10454T>C	Possible deafness or maternally inherited hypertension risk factor	Reported	255
m.10460T>C	Unspecified patient from clinical lab	Uncertain significance · reported	0