MT-TA

mitochondrially encoded tRNA-Ala (GCN), the group of Mitochondrially encoded transfer RNAs

Basic information

Region (hg38): M:5587-5655

Previous symbols: [ "MTTA" ]

Links

ENSG00000210127 ∙ NCBI:4553 ∙ OMIM:590000 ∙ HGNC:7475 ∙ ∙ ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

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

ClinVar

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

Variants pathogenicity by type

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

This is a list of pathogenic ClinVar variants found in the MT-TA 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-5590-G-A		MELAS syndrome	Uncertain significance (Jul 12, 2019)
M-5591-G-A		Inborn mitochondrial myopathy • MELAS syndrome • Mitochondrial disease	Uncertain significance (Mar 11, 2024)
M-5592-A-G		MELAS syndrome	Benign (Jul 12, 2019)
M-5600-A-G		MELAS syndrome	Likely benign (Jul 12, 2019)
M-5601-C-T		MELAS syndrome	Benign (Jul 12, 2019)
M-5603-C-T		MELAS syndrome	Benign (Jul 12, 2019)
M-5604-C-T		MELAS syndrome	Likely benign (Jul 12, 2019)
M-5605-A-G		MELAS syndrome	Benign (Jul 12, 2019)
M-5607-T-C		MELAS syndrome	Uncertain significance (Jul 12, 2019)
M-5608-C-T		MELAS syndrome	Likely benign (Jul 12, 2019)
M-5609-T-C		MELAS syndrome	Uncertain significance (Jul 12, 2019)
M-5610-G-A		Inborn mitochondrial myopathy • Mitochondrial disease	Uncertain significance (Feb 12, 2024)
M-5613-T-C		not specified	Uncertain significance (May 04, 2022)
M-5618-T-C		MELAS syndrome	Benign (Jul 12, 2019)
M-5619-G-A		MELAS syndrome	Uncertain significance (Jul 12, 2019)
M-5628-T-C		MELAS syndrome	Benign (Jul 12, 2019)
M-5631-G-A		Inborn mitochondrial myopathy • Mitochondrial disease	Uncertain significance (Feb 26, 2024)
M-5633-C-T		MELAS syndrome	Benign (Jul 12, 2019)
M-5640-A-G		MELAS syndrome	Likely benign (Jul 12, 2019)
M-5645-G-A		MELAS syndrome	Uncertain significance (Jul 12, 2019)
M-5650-G-A		Myotonic dystrophy-like myopathy • Mitochondrial disease	Likely pathogenic (Oct 24, 2022)
M-5654-T-C		MELAS syndrome	Uncertain significance (Jul 12, 2019)
M-5655-T-C		MELAS syndrome	Benign (Jul 12, 2019)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

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

Mouse Genome Informatics

• Gene name: mt-Ta
• Phenotype: muscle phenotype; cellular phenotype; homeostasis/metabolism phenotype; growth/size/body region phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); reproductive system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan)