MT-TS1 Chromosome MT
Mitochondrially encoded tRNA-Ser (UCN) 1
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What This Gene Does
Predicted to enable triplet codon-amino acid adaptor activity. Predicted to be involved in translation. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Mitochondrially encoded transfer RNAs
Locus Type
RNA, transfer
Location
mitochondria
Ensembl
ENSG00000210151
Associated Conditions (18)
MERRF/MELAS overlap syndrome
Mitochondrial cytochrome c oxidase deficiency
MELAS syndrome
Mitochondrial complex IV deficiency
nuclear type 1
Mitochondrial disease
Limb ataxia
Mitochondrial non-syndromic sensorineural hearing loss
neonatal lactic acidosis
Exercise intolerance
muscle pain
and lactic acidemia
Primary mitochondrial disorders
Deafness
sensorineural
with neurologic features
Rare genetic deafness
MERRF syndrome
Key Variants
RS199474817
Likely pathogenic
MERRF/MELAS overlap syndrome, Mitochondrial cytochrome c oxidase deficiency, MELAS syndrome
Health Risk
RS199474820
Likely pathogenic
Mitochondrial non-syndromic sensorineural hearing loss, Mitochondrial disease, Mitochondrial non-syndromic sensorineural hearing loss
Health Risk
RS199474821
Likely pathogenic
Mitochondrial non-syndromic sensorineural hearing loss, MELAS syndrome, Mitochondrial complex IV deficiency
Health Risk
RS2068703521
Likely pathogenic
neonatal lactic acidosis, Mitochondrial complex IV deficiency, nuclear type 1
Health Risk
RS387906419
Likely pathogenic
Exercise intolerance, muscle pain, and lactic acidemia
Health Risk
RS111033319
Pathogenic
Mitochondrial cytochrome c oxidase deficiency, Deafness, sensorineural
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS199474817 | Health Risk | Likely pathogenic | MERRF/MELAS overlap syndrome, Mitochondrial cytochrome c oxidase deficiency, MELAS syndrome |
| RS199474820 | Health Risk | Likely pathogenic | Mitochondrial non-syndromic sensorineural hearing loss, Mitochondrial disease, Mitochondrial non-syndromic sensorineural hearing loss |
| RS199474821 | Health Risk | Likely pathogenic | Mitochondrial non-syndromic sensorineural hearing loss, MELAS syndrome, Mitochondrial complex IV deficiency |
| RS2068703521 | Health Risk | Likely pathogenic | neonatal lactic acidosis, Mitochondrial complex IV deficiency, nuclear type 1 |
| RS387906419 | Health Risk | Likely pathogenic | Exercise intolerance, muscle pain, and lactic acidemia |
| RS111033319 | Health Risk | Pathogenic | Mitochondrial cytochrome c oxidase deficiency, Deafness, sensorineural |