MT-TS1

Chr MT

tRNA-Ser

Also known as: MTTS1

NCBI Gene: 4574 ENSG00000210151 OMIM: 590080

This gene encodes a mitochondrial transfer RNA that incorporates serine into proteins during mitochondrial protein synthesis. Mutations cause non-syndromic sensorineural hearing loss and MERRF-like syndrome, with hearing loss being a common presentation of maternally inherited deafness. Inheritance follows a maternal pattern due to mitochondrial location, and clinical severity depends on the degree of heteroplasmy.

GeneReviews 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]

GeneReviews OMIM 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

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GeneReview available — MT-TS1

Authoritative clinical overview · Recommended first read

Open GeneReview ↗

Nuclear-gene analyses omitted

MT-TS1 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-TS1

Live table ↗

Variant	Disease	Status	GenBank seqs
m.7451A>T	CPEO+ptosis	Reported	0
m.7453G>A	Fatal neonatal lactic acidosis / Neonatal lactic acidosis, exercise intolerance, mild ID	Likely pathogenic · confirmed	0
m.7456A>G	DEAF	Unclear	36
m.7458G>A	PEO	Reported	0
m.7462C>T	DEAF	Uncertain significance · reported	6
m.7471C>-	Maternally inherited hypertension / deafness	Uncertain significance · reported	30
m.7471C>CC	PEM / AMDF / Motor neuron disease-like	Pathogenic · confirmed	8
m.7472A>C	MM / DMDF modulator	Reported	11
m.7472A>CA	PEM / AMDF / Motor neuron disease-like	See 7471insC	0
m.7474A>-	Hearing loss and epilepsy	Reported	4
m.7474A>G	Hearing loss patient	Reported	5
m.7480T>G	MM	Reported	0
m.7484A>G	MERRF	Reported	0
m.7486G>A	CPEO	Reported	0
m.7492C>T	Hypertension / hearing loss risk factor	Reported	12
m.7496T>C	Hearing Loss	Reported	3
m.7497G>A	MM / EXIT	Likely pathogenic · confirmed	1
m.7501T>A	Cardiovascular disease; renal disease patient	Reported	1
m.7502C>T	Reported in tic disorder patient	Uncertain significance · reported	4
m.7505T>C	Maternally inherited hearing loss	Uncertain significance · reported	0
m.7506G>A	PEO with hearing loss	Reported	0
m.7510T>C	SNHL	Likely pathogenic · confirmed	1
m.7511T>C	SNHL/Deafness	Likely pathogenic · confirmed	2
m.7512T>C	PEM / MERME / MELAS	Likely pathogenic · confirmed	0