MT-TS2

Chr MT

tRNA-Ser

Also known as: MTTS2

NCBI Gene: 4575 ENSG00000210184 OMIM: 590085

This gene encodes mitochondrial tRNA for serine (AGY codons), which is essential for mitochondrial protein synthesis and oxidative phosphorylation. Mutations cause MELAS-like syndrome and cardiomyopathy through disruption of mitochondrial function. Inheritance is maternal, and clinical severity depends on the degree of heteroplasmy in affected tissues.

GeneReviews OMIM ResearchSummary from Curated mito context

GeneReviews OMIM ResearchGenerating clinical summary…

Clinical highlights

Gene–disease validity (ClinGen)

Definitive · 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-TS2

Authoritative clinical overview · Recommended first read

Open GeneReview ↗

Nuclear-gene analyses omitted

MT-TS2 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-TS2

Live table ↗

Variant	Disease	Status	GenBank seqs
m.12207G>A	Myopathy / Encephalopathy	Uncertain significance · reported	0
m.12224C>T	DEAF helper mutation	Reported	4
m.12235T>C	Hearing loss patient	Reported	253
m.12236G>A	DEAF / PCOS patient	Reported	546
m.12244G>A	MELAS	Reported	0
m.12246C>A	CIPO	Reported	4
m.12257G>A	Mitochondrial myopathy, RP, SNHL	Uncertain significance · reported	0
m.12258C>T	Unspecified patient from clinical lab	Uncertain significance · reported	0
m.12258C>A	DMDF / RP+SNHL	Likely pathogenic · confirmed	1
m.12261T>C	Myopathy+epilepsy+retinal degeneration+DEAF	Reported	0
m.12262C>A	Progressive MM+Deafness+Seizures	Reported	0
m.12264C>T	Multisystem Disease with Cataracts / Myopathy+epilepsy+DEAF+atypical autism	Uncertain significance · reported	0
m.12265A>G	Dilated cardiomyopathy	Reported	2