MT-TH
Chr MTtRNA-His
Also known as: MTTH
Predicted to enable triplet codon-amino acid adaptor activity. Predicted to be involved in translation. [provided by Alliance of Genome Resources, Jul 2025]
Clinical highlights
MT-TH 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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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
MITOMAP Disease Variants — MT-TH
Live table ↗| Variant | Disease | Status | GenBank seqs |
|---|---|---|---|
| m.12141A>G | Reported in tic disorder patient | Reported | 9 |
| m.12146A>G | MELAS | Reported | 0 |
| m.12147G>A | MERRF-MELAS / Encephalopathy | Likely pathogenic · confirmed | 0 |
| m.12148T>C | Developmental delay, optic atrophy, cataract, hearing loss, myopathy | Uncertain significance · reported | 1 |
| m.12158A>G | MELAS | Reported | 0 |
| m.12167T>C | Hearing loss patient | Reported | 2 |
| m.12182A>G | Sclerosis-like symptoms + white matter alterations | Author considered as VUS | 2 |
| m.12183G>A | RP + DEAF | Uncertain significance · reported | 1 |
| m.12187C>A | Asthenozoospermia | Reported | 0 |
| m.12188T>C | Hearing loss patient | Reported | 69 |
| m.12192G>A | MICM / possible G15927A deafness modulator | Reported | 159 |
| m.12197C>T | Congenital sideroblastic anemia (CSA) +SNHL +motor delay | Reported | 0 |
| m.12198T>C | Congenital sideroblastic anemia (CSA) | Reported | 0 |
| m.12201T>C | Maternally inherited non-syndromic deafness | Likely pathogenic · confirmed | 1 |
| m.12206C>T | MELAS-like encephalopathy+bilateral optic atrophy | Reported | 0 |
As of 2026-10-07 — a dated copy; MITOMAP can’t be fetched live, and the live table may be newer.
Source: MITOMAP (mitomap.org), CC BY 3.0
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →Trials that enrol by condition rarely name the gene: mitochondrial disease
External Resources
Links to major genomics databases and tools