MT-TP

Chr MT

tRNA-Pro

Also known as: MTTP

NCBI Gene: 4571 ENSG00000210196 OMIM: 590075

This gene encodes mitochondrial tRNA for proline, which is essential for mitochondrial protein synthesis and oxidative phosphorylation. Mutations cause mitochondrial myopathy and MELAS-like syndrome with variable clinical severity depending on the degree of heteroplasmy. Inheritance is maternal through the mitochondrial genome.

GeneReviews OMIM ResearchSummary from Curated mito context

GeneReviews OMIM ResearchGenerating clinical summary…

Clinical highlights

Gene–disease validity (ClinGen)

Definitive · mitochondrial disease · MT · ClinGen 2022

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

LOF

Mechanism· G2P

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GeneReview available — MT-TP

Authoritative clinical overview · Recommended first read

Open GeneReview ↗

Nuclear-gene analyses omitted

MT-TP 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-TP

Live table ↗

Variant	Disease	Status	GenBank seqs
m.15958A>T	Severe myopathy / EXIT	Uncertain significance · reported	0
m.15965A>G	Dopaminergic nerve cell death (PD)	Reported	12
m.15967G>A	MERRF-like disease	Uncertain significance · reported	0
m.15975C>T	Ataxia+RP+deafness	Reported	0
m.15986G>GG	LHON modulator	Reported	0
m.15990C>T	MM / PEO	Likely pathogenic · confirmed	0
m.15992A>G	Maternally inherited hypertension / tic disorder patient / hearing loss patient	Reported	5
m.15992A>T	Exercise-induced muscle swelling and fatigue	Reported	1
m.15995G>A	Mitochondrial cytopathy	Reported	0
m.15997T>C	Hearing loss patient	Reported	0
m.15998A>T	Mitochondrial myopathy	Reported	0
m.16002T>C	Mitochondrial cytopathy	Uncertain significance · reported	0
m.16015T>C	Mitochondrial myopathy	Reported	0
m.16018T>TTCTCTGTTCTTTCAT	Dilated cardiomyopathy (15 bp dup), alternate notation	Reported	0
m.16021CT>-	Mitochondrial myopathy	Reported	0
m.16023G>A	Migraine /pigmentary retinopathy /deafness /leukoarilosis; seizures / failure to thrive, neutropenia /anemia	Reported	0