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MT-TR

Chr mitochondria

mitochondrially encoded tRNA-Arg (CGN)

Aliases:
trnR
OMIM: 590005 ↗NCBI: 4573 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

No predicted 3D structure for MT-TR. Non-coding genes and pseudogenes typically have no protein product.

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Likely inborn error of metabolism

    MITOCHONDRIAL

  • Mitochondrial disorders

    MITOCHONDRIAL

  • Undiagnosed metabolic disorders

    MITOCHONDRIAL

  • Childhood onset dystonia, chorea or related movement disorder

    MITOCHONDRIAL

Disease associations (Open Targets)

  • inborn mitochondrial metabolism disorder

    0.18

  • mitochondrial disease

    0.18

  • aortic stenosis

    0.01

  • cardiac amyloidosis

    0.01

  • carpal tunnel syndrome

    0.01

  • amyloidosis

    0.00

  • AL amyloidosis

    0.00

  • hemophilia A

    0.00

  • Alzheimer disease

    0.00

  • autism

    0.00

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.