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MT-TV

Chr mitochondria

mitochondrially encoded tRNA-Val (GUN)

Aliases:
trnV
OMIM: 590105 ↗NCBI: 4577 ↗Ensembl ↗

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Predicted protein structure

No predicted 3D structure for MT-TV. 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

  • Hereditary neuropathy or pain disorder

    MITOCHONDRIAL

  • Paediatric or syndromic cardiomyopathy

    MITOCHONDRIAL

  • Childhood onset dystonia, chorea or related movement disorder

    MITOCHONDRIAL

  • Hypertrophic cardiomyopathy

    MITOCHONDRIAL

  • Tubulointerstitial kidney disease

    MITOCHONDRIAL

Disease associations (Open Targets)

  • maternally-inherited Leigh syndrome

    0.37

  • inborn mitochondrial metabolism disorder

    0.37

  • mitochondrial disease

    0.37

  • Leigh syndrome

    0.18

  • hypertrophic cardiomyopathy

    0.18

  • MELAS

    0.18

  • MELAS syndrome

    0.18

  • breast carcinoma

    0.06

  • ulcerative colitis

    0.05

  • sebaceous of Jadassohn nevus

    0.04

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.