MT-TE

Chr MT

tRNA-Glu

Also known as: MTTE

This gene encodes mitochondrial tRNA for glutamate, which is essential for mitochondrial protein synthesis and oxidative phosphorylation. Mutations cause diabetes with deafness, mitochondrial myopathy, and reversible cytochrome c oxidase deficiency. Inheritance is maternal, and clinical severity depends on the degree of heteroplasmy in affected tissues.

ResearchSummary from Curated mito context

ResearchGenerating clinical summary…

Clinical highlights

Gene–disease validity (ClinGen)

Definitive · mitochondrial disease · MT · ClinGen 2023

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

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Nuclear-gene analyses omitted

MT-TE 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-TE

Live table ↗

Variant	Disease	Status	GenBank seqs
m.14674T>C	Reversible COX deficiency myopathy	Likely pathogenic · confirmed	10
m.14674T>G	Reversible COX deficiency myopathy	Uncertain significance · reported	0
m.14677T>C	CPEO	Reported	0
m.14680C>A	Mitochondrial encephalomyopathy	Reported	0
m.14685G>A	Cataracts w spastic paraparesis & ataxia	Reported	0
m.14687A>G	Mito myopathy w respiratory failure; intellectual disability	Reported	396
m.14692A>G	LHON helper / Maternally inherited diabetes & deafness /tic disorder	Uncertain significance · reported	25
m.14693A>G	MELAS / LHON / DEAF / hypertension helper	Reported	358
m.14696A>G	Progressive Encephalopathy	Reported	116
m.14701C>T	Reversible infantile respiratory chain deficiency (RIRCD)	Reported	0
m.14709T>C	MM+DMDF / Encephalomyopathy / Dementia+diabetes+ophthalmoplegia	Likely pathogenic · confirmed	1
m.14710G>A	Encephalomyopathy + Retinopathy	Uncertain significance · confirmed	0
m.14721G>A	Isolated complex I deficiency	Reported	0
m.14723T>C	CPEO + Myopathy	Reported	0
m.14724G>A	Mito Leukoencephalopathy	Uncertain significance · reported	0
m.14728T>C	Late-onset mitochondrial encephalomyopathy	Reported	0
m.14739G>A	EXIT	Uncertain significance · reported	4