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TNNT1

Chr 19q13.42

troponin T1, slow skeletal type

Aliases:
ANM, STNT, TNT, TNTS, FLJ98147
MANE:
ENST00000588981.6

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Arthrogryposis

    BIALLELIC, autosomal or pseudoautosomal
  • Congenital myopathy

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • nemaline myopathy 5

    0.77
  • nemaline myopathy 5B, autosomal recessive, childhood-onset

    0.66
  • nemaline myopathy 5C, autosomal dominant

    0.62
  • Amish nemaline myopathy

    0.47
  • nemaline myopathy

    0.39
  • autosomal recessive nemaline myopathy

    0.37
  • Thrombocytopenia

    0.30
  • hereditary disease

    0.19
  • myopathy

    0.13
  • amyotrophic lateral sclerosis

    0.10

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

Protein function (UniProt)

Troponin T, slow skeletal muscle

Troponin T is the tropomyosin-binding subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity

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.