MT-TL1 Chromosome MT
Mitochondrially encoded tRNA-Leu (UUA/G) 1
Upload your DNA to see your personal genotypes for variants in MT-TL1.
What This Gene Does
Predicted to enable triplet codon-amino acid adaptor activity. Predicted to be involved in translation. Implicated in cardiomyopathy. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Mitochondrially encoded transfer RNAs
Locus Type
RNA, transfer
Location
mitochondria
Ensembl
ENSG00000209082
Associated Conditions (36)
MELAS syndrome
Mitochondrial disease
MITOCHONDRIAL CARDIOMYOPATHY WITH OR WITHOUT SKELETAL MYOPATHY
MITOCHONDRIAL SKELETAL MYOPATHY
MT-TL1-related disorder
Myelodysplastic syndrome
Primary mitochondrial disorders
Age related macular degeneration 2
Mitochondrial complex IV deficiency
nuclear type 1
Cyclical vomiting syndrome
MERRF/MELAS overlap syndrome
3-methylglutaconic aciduria type 1
Diabetes-deafness syndrome maternally transmitted
Leigh syndrome
Stroke disorder
Glucose intolerance
Sensorineural hearing loss disorder
Short stature
MERRF syndrome
+16 more conditions
Key Variants
RS1603218856
Likely pathogenic
MELAS syndrome, Mitochondrial disease, MELAS syndrome
Health Risk
RS1603218878
Likely pathogenic
MELAS syndrome, Mitochondrial disease, MITOCHONDRIAL CARDIOMYOPATHY WITH OR WITHOUT SKELETAL MYOPATHY
Health Risk
RS193303018
Likely pathogenic
Myelodysplastic syndrome, MELAS syndrome, Mitochondrial disease
Health Risk
RS199474657
Likely pathogenic
MELAS syndrome, Age related macular degeneration 2, Mitochondrial complex IV deficiency
Health Risk
RS199474659
Likely pathogenic
MERRF syndrome, Diabetes mellitus, noninsulin-dependent
Health Risk
RS199474660
Likely pathogenic
MELAS syndrome, Mitochondrial disease, MITOCHONDRIAL CARDIOMYOPATHY WITH OR WITHOUT SKELETAL MYOPATHY
Health Risk
RS199474661
Likely pathogenic
Mitochondrial encephalomyopathy, MELAS syndrome, Mitochondrial disease
Health Risk
RS199474662
Likely pathogenic
Progressive external ophthalmoplegia, proximal myopathy, and sudden death
Health Risk
RS199474663
Likely pathogenic
MELAS syndrome, Mitochondrial disease, MITOCHONDRIAL CARDIOMYOPATHY WITH OR WITHOUT SKELETAL MYOPATHY
Health Risk
RS2521952299
Likely pathogenic
Mitochondrial disease, Primary mitochondrial disorders, Mitochondrial disease
Health Risk
RS199474658
Pathogenic
MELAS syndrome, MERRF syndrome, Mitochondrial disease
Health Risk
All Variants (11)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1603218856 | Health Risk | Likely pathogenic | MELAS syndrome, Mitochondrial disease, MELAS syndrome |
| RS1603218878 | Health Risk | Likely pathogenic | MELAS syndrome, Mitochondrial disease, MITOCHONDRIAL CARDIOMYOPATHY WITH OR WITHOUT SKELETAL MYOPATHY |
| RS193303018 | Health Risk | Likely pathogenic | Myelodysplastic syndrome, MELAS syndrome, Mitochondrial disease |
| RS199474657 | Health Risk | Likely pathogenic | MELAS syndrome, Age related macular degeneration 2, Mitochondrial complex IV deficiency |
| RS199474659 | Health Risk | Likely pathogenic | MERRF syndrome, Diabetes mellitus, noninsulin-dependent |
| RS199474660 | Health Risk | Likely pathogenic | MELAS syndrome, Mitochondrial disease, MITOCHONDRIAL CARDIOMYOPATHY WITH OR WITHOUT SKELETAL MYOPATHY |
| RS199474661 | Health Risk | Likely pathogenic | Mitochondrial encephalomyopathy, MELAS syndrome, Mitochondrial disease |
| RS199474662 | Health Risk | Likely pathogenic | Progressive external ophthalmoplegia, proximal myopathy, and sudden death |
| RS199474663 | Health Risk | Likely pathogenic | MELAS syndrome, Mitochondrial disease, MITOCHONDRIAL CARDIOMYOPATHY WITH OR WITHOUT SKELETAL MYOPATHY |
| RS2521952299 | Health Risk | Likely pathogenic | Mitochondrial disease, Primary mitochondrial disorders, Mitochondrial disease |
| RS199474658 | Health Risk | Pathogenic | MELAS syndrome, MERRF syndrome, Mitochondrial disease |