MT-TL1 (mitochondrially encoded tRNA-Leu (UUA/G) 1) - Rat Genome Database

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Gene: MT-TL1 (mitochondrially encoded tRNA-Leu (UUA/G) 1) Homo sapiens
Analyze
Symbol: MT-TL1
Name: mitochondrially encoded tRNA-Leu (UUA/G) 1
RGD ID: 1353707
HGNC Page HGNC:7490
Description: Implicated in cardiomyopathy.
Type: trna (Ensembl: Mt_tRNA)
Previously known as: mitochondrially encoded tRNA leucine 1 (UUA/G); MTTL1
RGD Orthologs
Mouse
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38MT3,230 - 3,304 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblMT3,230 - 3,304 (+)EnsemblGRCh38hg38GRCh38
GRCh37MT3,230 - 3,304 (+)NCBIGRCh37GRCh37hg19GRCh37


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
3-Methylglutaconic aciduria  (IAGP)
Abnormal central motor function  (IAGP)
Abnormal left ventricular function  (IAGP)
Abnormal mitochondria in muscle tissue  (IAGP)
Abnormal prosody  (IAGP)
Abnormal renal tubule morphology  (IAGP)
Abnormality of Krebs cycle metabolism  (IAGP)
Abnormality of movement  (IAGP)
Abnormality of retinal pigmentation  (IAGP)
Agenesis of corpus callosum  (IAGP)
Anemia  (IAGP)
Anterior hypopituitarism  (IAGP)
Anxiety  (IAGP)
Aphasia  (IAGP)
Aplasia/Hypoplasia of the cerebral white matter  (IAGP)
Apnea  (IAGP)
Arrhythmia  (IAGP)
Ataxia  (IAGP)
Axial muscle weakness  (IAGP)
Basal ganglia calcification  (IAGP)
Bilateral sensorineural hearing impairment  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Bipolar affective disorder  (IAGP)
Brain atrophy  (IAGP)
Brisk reflexes  (IAGP)
Bulbar signs  (IAGP)
Cardiac conduction abnormality  (IAGP)
Cardiomyopathy  (IAGP)
Cerebral atrophy  (IAGP)
Cerebral cortical atrophy  (IAGP)
Cerebral palsy  (IAGP)
Cerebral visual impairment  (IAGP)
Chorea  (IAGP)
Chronic kidney disease  (IAGP)
Cognitive impairment  (IAGP)
Concentric hypertrophic cardiomyopathy  (IAGP)
Congestive heart failure  (IAGP)
Constipation  (IAGP)
Decreased activity of mitochondrial complex I  (IAGP)
Decreased activity of mitochondrial complex III  (IAGP)
Delayed skeletal maturation  (IAGP)
Dementia  (IAGP)
Demyelinating peripheral neuropathy  (IAGP)
Depression  (IAGP)
Developmental cataract  (IAGP)
Developmental regression  (IAGP)
Diabetes mellitus  (IAGP)
Diarrhea  (IAGP)
Dilated cardiomyopathy  (IAGP)
Diplopia  (IAGP)
Distal peripheral sensory neuropathy  (IAGP)
Dyskinesia  (IAGP)
Dysphagia  (IAGP)
Dyspnea  (IAGP)
Dystonia  (IAGP)
EEG abnormality  (IAGP)
Elevated brain lactate level by MRS  (IAGP)
Elevated circulating creatine kinase concentration  (IAGP)
EMG abnormality  (IAGP)
Encephalopathy  (IAGP)
Episodic respiratory distress  (IAGP)
Episodic vomiting  (IAGP)
Erythema  (IAGP)
Exercise intolerance  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties in infancy  (IAGP)
Fever  (IAGP)
Fluctuations in consciousness  (IAGP)
Focal segmental glomerulosclerosis  (IAGP)
Focal T2 hyperintense basal ganglia lesion  (IAGP)
Focal-onset seizure  (IAGP)
Gait ataxia  (IAGP)
Gait disturbance  (IAGP)
Gastrointestinal dysmotility  (IAGP)
Generalized myoclonic seizure  (IAGP)
Global developmental delay  (IAGP)
Glucose intolerance  (IAGP)
Growth abnormality  (IAGP)
Hearing impairment  (IAGP)
Hemianopia  (IAGP)
Hemiparesis  (IAGP)
Hemiplegia/hemiparesis  (IAGP)
Hepatic failure  (IAGP)
Hepatic steatosis  (IAGP)
Hepatitis  (IAGP)
Hepatomegaly  (IAGP)
Hyperalaninemia  (IAGP)
Hyperreflexia  (IAGP)
Hypertension  (IAGP)
Hypertonia  (IAGP)
Hypertrichosis  (IAGP)
Hypertrophic cardiomyopathy  (IAGP)
Hyperventilation  (IAGP)
Hypogonadotropic hypogonadism  (IAGP)
Hypoparathyroidism  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hyporeflexia  (IAGP)
Hypothermia  (IAGP)
Hypothyroidism  (IAGP)
Hypotonia  (IAGP)
Hypsarrhythmia  (IAGP)
Impaired visuospatial constructive cognition  (IAGP)
Increased circulating lactate concentration  (IAGP)
Increased CSF lactate  (IAGP)
Increased CSF protein concentration  (IAGP)
Increased serum pyruvate  (IAGP)
Infantile muscular hypotonia  (IAGP)
Infantile spasms  (IAGP)
Intellectual disability, mild  (IAGP)
Intestinal pseudo-obstruction  (IAGP)
Intrauterine growth retardation  (IAGP)
Lactic acidosis  (IAGP)
Lacticaciduria  (IAGP)
Leber optic atrophy  (IAGP)
Left ventricular hypertrophy  (IAGP)
Low plasma citrulline  (IAGP)
Memory impairment  (IAGP)
Migraine  (IAGP)
Mildly elevated creatine kinase  (IAGP)
Mitochondrial inheritance  (IAGP)
Mitochondrial myopathy  (IAGP)
Mixed demyelinating and axonal polyneuropathy  (IAGP)
Motor delay  (IAGP)
Multiple glomerular cysts  (IAGP)
Multiple lipomas  (IAGP)
Muscle abnormality related to mitochondrial dysfunction  (IAGP)
Muscle weakness  (IAGP)
Myelodysplasia  (IAGP)
Myoclonus  (IAGP)
Myopathy  (IAGP)
Myopia  (IAGP)
Nephropathy  (IAGP)
Nystagmus  (IAGP)
Ophthalmoparesis  (IAGP)
Ophthalmoplegia  (IAGP)
Optic atrophy  (IAGP)
Peripheral axonal neuropathy  (IAGP)
Peripheral neuropathy  (IAGP)
Personality changes  (IAGP)
Pigmentary retinopathy  (IAGP)
Progressive external ophthalmoplegia  (IAGP)
Progressive intervertebral space narrowing  (IAGP)
Progressive proximal muscle weakness  (IAGP)
Progressive sensorineural hearing impairment  (IAGP)
Proteinuria  (IAGP)
Proximal tubulopathy  (IAGP)
Psychosis  (IAGP)
Psychotic mentation  (IAGP)
Ptosis  (IAGP)
Pulmonary arterial hypertension  (IAGP)
Ragged-red muscle fibers  (IAGP)
Recurrent pancreatitis  (IAGP)
Recurrent paroxysmal headache  (IAGP)
Reduced consciousness  (IAGP)
Reduced tendon reflexes  (IAGP)
Renal tubular acidosis  (IAGP)
Respiratory insufficiency  (IAGP)
Respiratory insufficiency due to muscle weakness  (IAGP)
Restrictive ventilatory defect  (IAGP)
Rod-cone dystrophy  (IAGP)
Segmental peripheral demyelination/remyelination  (IAGP)
Seizure  (IAGP)
Sensorimotor neuropathy  (IAGP)
Sensorineural hearing impairment  (IAGP)
Severe global developmental delay  (IAGP)
Short attention span  (IAGP)
Short stature  (IAGP)
Skeletal muscle atrophy  (IAGP)
Spasticity  (IAGP)
Specific learning disability  (IAGP)
Stroke  (IAGP)
Stroke-like episode  (IAGP)
Stuttering  (IAGP)
Third degree atrioventricular block  (IAGP)
Type I diabetes mellitus  (IAGP)
Type II diabetes mellitus  (IAGP)
Variable expressivity  (IAGP)
Visual loss  (IAGP)
Vitiligo  (IAGP)
Vomiting  (IAGP)
Widened cerebral subarachnoid space  (IAGP)
Wolff-Parkinson-White syndrome  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
3. A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with maternally inherited cardiomyopathy. Silvestri G, etal., Hum Mutat. 1994;3(1):37-43.
Additional References at PubMed
PMID:11145497   PMID:11587074   PMID:11733107   PMID:12100083   PMID:12133550   PMID:12150714   PMID:12151350   PMID:12207935   PMID:12453978   PMID:12581800   PMID:12590018   PMID:12663619  
PMID:12772452   PMID:12906157   PMID:14571278   PMID:14648149   PMID:14680844   PMID:15079803   PMID:15126296   PMID:15181978   PMID:15223991   PMID:15351082   PMID:15477592   PMID:15660201  
PMID:15782498   PMID:16331560   PMID:16414144   PMID:16645209   PMID:16645216   PMID:16884381   PMID:17035175   PMID:17130166   PMID:17130528   PMID:17172609   PMID:17198195   PMID:17300808  
PMID:17336924   PMID:17357124   PMID:17619138   PMID:17684616   PMID:17823937   PMID:18279408   PMID:18456717   PMID:18462486   PMID:18636170   PMID:18674747   PMID:18701018   PMID:18753147  
PMID:18955007   PMID:19066432   PMID:19344718   PMID:19350514   PMID:19382419   PMID:19470628   PMID:19722047   PMID:19758471   PMID:19778529   PMID:20064630   PMID:20111055   PMID:20301403  
PMID:20301411   PMID:20301693   PMID:20610441   PMID:21453644   PMID:22403016   PMID:22747555   PMID:22781753   PMID:23056349   PMID:23196335   PMID:23243073   PMID:23355809   PMID:23806424  
PMID:24163135   PMID:24338029   PMID:24534033   PMID:25086207   PMID:25680467   PMID:26335180   PMID:27296531   PMID:27453452   PMID:27973917   PMID:28599824   PMID:28679533   PMID:29138824  
PMID:29928977   PMID:33259687  


Genomics

Comparative Map Data
MT-TL1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38MT3,230 - 3,304 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblMT3,230 - 3,304 (+)EnsemblGRCh38hg38GRCh38
GRCh37MT3,230 - 3,304 (+)NCBIGRCh37GRCh37hg19GRCh37
mt-Tl1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39MT2,676 - 2,750 (+)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblMT2,676 - 2,750 (+)EnsemblGRCm39 Ensembl
GRCm38MT2,676 - 2,750 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblMT2,676 - 2,750 (+)EnsemblGRCm38mm10GRCm38
MGSCv37MT2,676 - 2,750 (+)NCBIGRCm37MGSCv37mm9NCBIm37

Variants

.
Variants in MT-TL1
1 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NC_012920.1:m.3243A>G single nucleotide variant 3-methylglutaconic aciduria type 1 [RCV000022901]|Age related macular degeneration 2 [RCV000010209]|Auditory neuropathy spectrum disorder [RCV003984803]|Cerebral palsy [RCV001794441]|Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1 [RCV002250458]|Cyclical vomiting syndrome [RCV000010210]|Diabetes-deafness syndrome maternally transmitted [RCV000032997]|Diabetes-deafness syndrome maternally transmitted [RCV003325938]|Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000010206]|Leigh syndrome [RCV000143997]|MERRF syndrome [RCV000763623]|MERRF/MELAS overlap syndrome [RCV000022902]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000010211]|Mitochondrial disease [RCV000495738]|Muscle stiffness, painful [RCV000010208]|See cases [RCV002287327]|Sensorineural hearing loss disorder [RCV000626561]|not provided [RCV000224855]|not specified [RCV002285005] ChrMT:3243 [GRCh38]
ChrMT:3243 [GRCh37]		 pathogenic|likely pathogenic|not provided
m.3271T>C single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000010212]|MERRF syndrome [RCV000763624]|Mitochondrial disease [RCV003319163]|not specified [RCV000507161] ChrMT:3271 [GRCh38]
ChrMT:3271 [GRCh37]		 pathogenic
m.3256C>T single nucleotide variant Diabetes mellitus, noninsulin-dependent, maternally transmitted [RCV000010214]|Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000850697]|MERRF syndrome [RCV000010213]|Mitochondrial disease [RCV003153298] ChrMT:3256 [GRCh38]
ChrMT:3256 [GRCh37]		 pathogenic|likely pathogenic
m.3303C>T single nucleotide variant Cardiomyopathy with or without skeletal myopathy [RCV000010215]|Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000850713]|Mitochondrial disease [RCV003162234] ChrMT:3303 [GRCh38]
ChrMT:3303 [GRCh37]		 pathogenic|likely pathogenic
m.3250T>C AND Juvenile myopathy, encephalopathy, lactic acidosis single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000850690]|Skeletal myopathy, responsive to riboflavin [RCV000010216] ChrMT:3250 [GRCh38]
ChrMT:3250 [GRCh37]		 pathogenic|uncertain significance
m.3252A>G AND Juvenile myopathy, encephalopathy, lactic acidosis single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000850692]|Mitochondrial encephalomyopathy [RCV000010217] ChrMT:3252 [GRCh38]
ChrMT:3252 [GRCh37]		 pathogenic|likely pathogenic
m.3251A>G AND Juvenile myopathy, encephalopathy, lactic acidosis single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000850691]|Progressive external ophthalmoplegia, proximal myopathy, and sudden death [RCV000010218] ChrMT:3251 [GRCh38]
ChrMT:3251 [GRCh37]		 pathogenic
m.3260A>G AND Juvenile myopathy, encephalopathy, lactic acidosis single nucleotide variant Cardiomyopathy with or without skeletal myopathy [RCV000010219]|Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000850698] ChrMT:3260 [GRCh38]
ChrMT:3260 [GRCh37]		 pathogenic
m.3290T>C AND Juvenile myopathy, encephalopathy, lactic acidosis single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000850710]|SUDDEN INFANT DEATH SYNDROME [RCV000010220] ChrMT:3290 [GRCh38]
ChrMT:3290 [GRCh37]		 pathogenic|benign
m.3274A>G single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000850703]|MERRF syndrome [RCV002288480]|Neuropsychiatric disorder and early-onset cataract [RCV000010221] ChrMT:3274 [GRCh38]
ChrMT:3274 [GRCh37]		 pathogenic|uncertain significance
m.3249G>A single nucleotide variant Kearns-Sayre syndrome [RCV000010222] ChrMT:3249 [GRCh38]
ChrMT:3249 [GRCh37]		 pathogenic|uncertain significance
m.3242G>A AND Juvenile myopathy, encephalopathy, lactic acidosis single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000850687]|Myelodysplastic syndrome [RCV000010223] ChrMT:3242 [GRCh38]
ChrMT:3242 [GRCh37]		 pathogenic|likely pathogenic|other
NC_012920.1:m.3276A>G single nucleotide variant not specified [RCV000223921] ChrMT:3276 [GRCh38]
ChrMT:3276 [GRCh37]		 uncertain significance
NC_012920.1:m.3275C>T AND Juvenile myopathy, encephalopathy, lactic acidosis single nucleotide variant Developmental delay [RCV000408928]|Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000850706]|Leber optic atrophy [RCV000408925]|Myopia [RCV000408938]|Neuromuscular disease [RCV000408950] ChrMT:3275 [GRCh38]
ChrMT:3275 [GRCh37]		 benign|uncertain significance
NC_012920.1:m.3291T>C single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000850711]|Mitochondrial disease [RCV002291215] ChrMT:3291 [GRCh38]
ChrMT:3291 [GRCh37]		 pathogenic|likely pathogenic
NC_012920.1(MT-CYB):m.3269A>G AND Juvenile myopathy, encephalopathy, lactic acidosis single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000850701] ChrMT:3269 [GRCh38]
ChrMT:3269 [GRCh37]		 uncertain significance
NC_012920.1(MT-CYB):m.3275C>G AND Juvenile myopathy, encephalopathy, lactic acidosis single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000850704] ChrMT:3275 [GRCh38]
ChrMT:3275 [GRCh37]		 likely benign
NC_012920.1(MT-CYB):m.3275C>A AND Juvenile myopathy, encephalopathy, lactic acidosis single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000850705] ChrMT:3275 [GRCh38]
ChrMT:3275 [GRCh37]		 likely benign
NC_012920.1(MT-CYB):m.3277G>A AND Juvenile myopathy, encephalopathy, lactic acidosis single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000850707] ChrMT:3277 [GRCh38]
ChrMT:3277 [GRCh37]		 benign
NC_012920.1(MT-CYB):m.3278T>C AND Juvenile myopathy, encephalopathy, lactic acidosis single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000850708] ChrMT:3278 [GRCh38]
ChrMT:3278 [GRCh37]		 benign
NC_012920.1(MT-CYB):m.3236A>G AND Juvenile myopathy, encephalopathy, lactic acidosis single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000850686] ChrMT:3236 [GRCh38]
ChrMT:3236 [GRCh37]		 benign
NC_012920.1(MT-CYB):m.3254C>A AND Juvenile myopathy, encephalopathy, lactic acidosis single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000850695] ChrMT:3254 [GRCh38]
ChrMT:3254 [GRCh37]		 benign
NC_012920.1(MT-CYB):m.3263C>T AND Juvenile myopathy, encephalopathy, lactic acidosis single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000850700] ChrMT:3263 [GRCh38]
ChrMT:3263 [GRCh37]		 uncertain significance
NC_012920.1(MT-TL1):m.3243A>T AND Juvenile myopathy, encephalopathy, lactic acidosis single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000850688]|Mitochondrial disease [RCV003153872] ChrMT:3243 [GRCh38]
ChrMT:3243 [GRCh37]		 pathogenic|likely pathogenic
NC_012920.1(MT-CYB):m.3248G>A AND Juvenile myopathy, encephalopathy, lactic acidosis single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000850689] ChrMT:3248 [GRCh38]
ChrMT:3248 [GRCh37]		 uncertain significance
NC_012920.1(MT-CYB):m.3254C>T AND Juvenile myopathy, encephalopathy, lactic acidosis single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000850694] ChrMT:3254 [GRCh38]
ChrMT:3254 [GRCh37]		 likely benign
NC_012920.1(MT-CYB):m.3272T>C AND Juvenile myopathy, encephalopathy, lactic acidosis single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000850702] ChrMT:3272 [GRCh38]
ChrMT:3272 [GRCh37]		 uncertain significance
NC_012920.1(MT-CYB):m.3302A>G single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000850712]|Mitochondrial disease [RCV003153873] ChrMT:3302 [GRCh38]
ChrMT:3302 [GRCh37]		 pathogenic|likely pathogenic
NC_012920.1(MT-CYB):m.3252A>T AND Juvenile myopathy, encephalopathy, lactic acidosis single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000850693] ChrMT:3252 [GRCh38]
ChrMT:3252 [GRCh37]		 uncertain significance
NC_012920.1(MT-CYB):m.3288A>G AND Juvenile myopathy, encephalopathy, lactic acidosis single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000850709] ChrMT:3288 [GRCh38]
ChrMT:3288 [GRCh37]		 likely pathogenic
NC_012920.1(MT-CYB):m.3255G>A AND Juvenile myopathy, encephalopathy, lactic acidosis single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000850696] ChrMT:3255 [GRCh38]
ChrMT:3255 [GRCh37]		 pathogenic
NC_012920.1(MT-CYB):m.3261A>G AND Juvenile myopathy, encephalopathy, lactic acidosis single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000850699] ChrMT:3261 [GRCh38]
ChrMT:3261 [GRCh37]		 likely benign
NC_012920.1(MT-TL1):m.3290T>A single nucleotide variant See cases [RCV001196387] ChrMT:3290 [GRCh38]
ChrMT:3290 [GRCh37]		 uncertain significance
NC_012920.1(MT-TL1):m.3264T>C single nucleotide variant not specified [RCV002248011] ChrMT:3264 [GRCh38]
ChrMT:3264 [GRCh37]		 uncertain significance
NC_012920.1(MT-TL1):m.3244G>A single nucleotide variant not specified [RCV002248010] ChrMT:3244 [GRCh38]
ChrMT:3244 [GRCh37]		 uncertain significance
NC_012920.1(MT-TL1):m.3258T>C single nucleotide variant Mitochondrial disease [RCV002291221] ChrMT:3258 [GRCh38]
ChrMT:3258 [GRCh37]		 likely pathogenic
NC_012920.1(MT-TL1):m.3280A>G single nucleotide variant Mitochondrial disease [RCV002291222] ChrMT:3280 [GRCh38]
ChrMT:3280 [GRCh37]		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:167
Count of miRNA genes:164
Interacting mature miRNAs:167
Transcripts:ENST00000386347
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
D3S2893E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37396,336,547 - 96,336,688UniSTSGRCh37
GRCh37MT2,062 - 2,203UniSTSGRCh37
Build 36397,819,237 - 97,819,378RGDNCBI36
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map3q11.2UniSTS
HuRef393,705,899 - 93,706,040UniSTS
PMC31832P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37MT2,806 - 2,946UniSTSGRCh37
GRCh371110,529,460 - 10,529,600UniSTSGRCh37
Build 361110,486,036 - 10,486,176RGDNCBI36
Celera1110,651,202 - 10,651,342RGD
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map6q24.2UniSTS
NIB250  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371110,529,522 - 10,529,694UniSTSGRCh37
GRCh37MT2,712 - 2,884UniSTSGRCh37
Build 361110,486,098 - 10,486,270RGDNCBI36
Celera1110,651,264 - 10,651,436RGD
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map6q24.2UniSTS
Stanford-G3 RH Map11334.0UniSTS
GeneMap99-G3 RH Map11334.0UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High 1 3 3 2 189 1 1 5 21 1 1 1
Medium 759 738 488 129 389 126 1065 1287 2725 225 243 361 9 428 768
Low 1628 2017 1016 331 1103 183 3147 888 898 94 1018 1169 154 770 1956 2
Below cutoff 4 53 10 3 49 19 8 2 6 3 2 9

Sequence

Nucleotide Sequences

Reference Sequences
RefSeq Acc Id: ENST00000386347
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblMT3,230 - 3,304 (+)Ensembl

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7490 AgrOrtholog
COSMIC MT-TL1 COSMIC
Ensembl Genes ENSG00000209082 Ensembl
GTEx ENSG00000209082 GTEx
HGNC ID HGNC:7490 ENTREZGENE
Human Proteome Map MT-TL1 Human Proteome Map
NCBI Gene MT-TL1 ENTREZGENE
OMIM 590050 OMIM
PharmGKB PA31293 PharmGKB


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2020-02-26 MT-TL1  mitochondrially encoded tRNA-Leu (UUA/G) 1  MT-TL1  mitochondrially encoded tRNA leucine 1 (UUA/G)  Symbol and/or name change 19259463 PROVISIONAL
2015-05-19 MT-TL1  mitochondrially encoded tRNA leucine 1 (UUA/G)  TRNL1  mitochondrially encoded tRNA leucine 1 (UUA/G)  Symbol and/or name change 5135510 APPROVED
2015-05-19 MT-TL1  mitochondrially encoded tRNA leucine 1 (UUA/G)  TRNL1    Symbol and/or name change 5135510 APPROVED
2014-01-07 TRNL1  mitochondrially encoded tRNA leucine 1 (UUA/G)  MT-TL1    Symbol and/or name change 5135510 APPROVED
2014-01-07 TRNL1  mitochondrially encoded tRNA leucine 1 (UUA/G)  MT-TL1  mitochondrially encoded tRNA leucine 1 (UUA/G)  Symbol and/or name change 5135510 APPROVED