MT-TI

mitochondrially encoded tRNA-Ile (AUU/C), the group of Mitochondrially encoded transfer RNAs

Basic information

Region (hg38): M:4263-4331

Previous symbols: [ "MTTI" ]

Links

ENSG00000210100 ∙ NCBI:4565 ∙ OMIM:590045 ∙ HGNC:7488 ∙ ∙ ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• Leigh syndrome (Limited), mode of inheritance: Mitochondrial
• mitochondrial disease (Definitive), mode of inheritance: Mitochondrial

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Deafness, mitochondrial; Hypertension, hypercholesterolemia, and hypomagnesemia (Maternal)	Maternal	Audiologic/Otolaryngologic; Renal	Treatment of electrolyte abnormalities, as well as blood pressure control, can be beneficial; For prelingual hearing loss, early recognition and treatment of hearing impairment may improve outcomes, including speech and language development; Aminoglycosides should be avoided	Audiologic/Otolaryngologic; Biochemical; Cardiovascular; Endocrine; Musculoskeletal; Neurologic; Renal	11782991; 12767666; 15121771; 15498972; 1632786; 889580; 15121771; 15498972; 1978914; 22241583
Individuals have been described with a wide range of cardiovascular manifestations, including fatal infantile forms, as well as familial hypertrophic cardiomyopathy; Cardiac transplant has been described

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MT-TI gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MT-TI gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	0	0

Variants in MT-TI

This is a list of pathogenic ClinVar variants found in the MT-TI region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
M-4264-G-A		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)
M-4269-A-G		Cardiomyopathy, fatal • Mitochondrial disease	Pathogenic (May 04, 2022)
M-4277-T-C		not specified • Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)
M-4284-G-A		Multisystem disorder • Juvenile myopathy, encephalopathy, lactic acidosis AND stroke • MERRF syndrome • Mitochondrial disease	Uncertain significance (Nov 28, 2023)
M-4290-T-C		Encephalopathy, familial progressive necrotizing • Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)
M-4291-T-C		Hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial	Pathogenic (Jul 07, 2021)
M-4295-A-G		Primary familial hypertrophic cardiomyopathy • Mitochondrial non-syndromic sensorineural hearing loss • not specified • Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Conflicting classifications of pathogenicity (Jul 12, 2019)
M-4296-G-A		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke • MERRF syndrome	Pathogenic/Likely pathogenic (May 04, 2022)
M-4298-G-A		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke • Mitochondrial disease	Uncertain significance (Dec 12, 2022)
M-4300-A-G		Primary familial hypertrophic cardiomyopathy • Primary dilated cardiomyopathy;Asymmetric septal hypertrophy • MERRF syndrome • Mitochondrial disease	Likely pathogenic (Sep 12, 2022)
M-4305-A-G			Uncertain significance (May 24, 2018)
M-4308-G-A		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke • Mitochondrial disease	Uncertain significance (Oct 10, 2022)
M-4310-A-G		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)
M-4311-G-A		Mitochondrial disease	Uncertain significance (Mar 09, 2023)
M-4312-C-T		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)
M-4312-CT-C		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)
M-4313-T-C		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)
M-4314-T-A		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)
M-4314-T-C		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)
M-4314-TA-T		not specified • Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)
M-4315-A-G		not specified	Uncertain significance (Jan 02, 2014)
M-4316-A-G		not specified • Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)
M-4317-A-G		Cardiomyopathy, fatal infantile • Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)
M-4318-C-T		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)
M-4320-C-A		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Pathway: Aminoacyl-tRNA biosynthesis - Homo sapiens (human) (Consensus)

Mouse Genome Informatics

• Gene name: mt-Ti