MT-TW

mitochondrially encoded tRNA-Trp (UGA/G), the group of Mitochondrially encoded transfer RNAs

Basic information

Region (hg38): M:5512-5579

Previous symbols: [ "MTTW" ]

Links

ENSG00000210117 ∙ NCBI:4578 ∙ OMIM:590095 ∙ HGNC:7501 ∙ ∙ ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

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

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Leigh syndrome	Maternal	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Biochemical; Neurologic	9266739; 19809478

ClinVar

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

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MT-TW 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-TW

This is a list of pathogenic ClinVar variants found in the MT-TW 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-5513-G-A		New-onset refractory status epilepticus	Likely pathogenic (Aug 07, 2024)
M-5514-A-G		MELAS syndrome	Benign (Jul 12, 2019)
M-5515-A-G		MELAS syndrome	Benign (Jul 12, 2019)
M-5516-A-G		MELAS syndrome	Likely benign (Jul 12, 2019)
M-5521-G-A		Inborn mitochondrial myopathy • MELAS syndrome • Mitochondrial disease	Likely pathogenic (Oct 03, 2022)
M-5523-T-G		Leigh syndrome • Mitochondrial disease	Uncertain significance (May 13, 2024)
M-5524-T-C		MELAS syndrome	Uncertain significance (Jul 12, 2019)
M-5527-A-G		MELAS syndrome	Benign (Jul 12, 2019)
M-5528-T-C		MELAS syndrome	Benign (Jul 12, 2019)
M-5530-C-T		MELAS syndrome	Benign (Jul 12, 2019)
M-5532-G-A		Neurogastrointestinal syndrome, mitochondrial • MELAS syndrome • Mitochondrial disease	Uncertain significance (May 13, 2024)
M-5536-A-AT		MELAS syndrome • Mitochondrial disease	Likely pathogenic (May 23, 2023)
M-5537-A-AT		Mitochondrial encephalopathy • Leigh syndrome	Pathogenic (Oct 23, 2020)
M-5538-G-A		MELAS syndrome • Mitochondrial disease	Uncertain significance (Oct 26, 2021)
M-5539-A-G		MELAS syndrome	Benign (Jul 12, 2019)
M-5539-A-T		MELAS syndrome	Likely benign (Jul 12, 2019)
M-5540-G-A		MELAS syndrome • Mitochondrial disease	Uncertain significance (May 13, 2024)
M-5542-C-T		MELAS syndrome	Uncertain significance (Jul 12, 2019)
M-5543-T-C		MELAS syndrome • Mitochondrial disease	Uncertain significance (May 13, 2024)
M-5544-T-C		MELAS syndrome	Uncertain significance (Jul 12, 2019)
M-5545-C-T		Encephalocardiomyopathy, mitochondrial • Mitochondrial disease	Uncertain significance (Apr 23, 2024)
M-5549-G-A		Mitochondrial encephalopathy	Pathogenic (Mar 01, 1995)
M-5550-C-T		MELAS syndrome	Uncertain significance (Jul 12, 2019)
M-5553-T-C		MELAS syndrome	Benign/Likely benign (Jul 12, 2019)
M-5553-T-G		MELAS syndrome	Likely benign (Jul 12, 2019)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

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

Mouse Genome Informatics

• Gene name: mt-Tw