TNNI1

Chr 1q32.1

troponin I1, slow skeletal type

Aliases:: ssTnI
MANE:: ENST00000361379.9

OMIM: 191042 ↗NCBI: 7135 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

TNNI1 · P19237

v62025-08-01

Predicted Aligned Error matrix for TNNI1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

78.1/ 100

Confident

187 residues

Confidence breakdown

Very high(≥ 90)47%
Confident(70–90)17%
Low(50–70)24%
Very low(< 50)13%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Congenital myopathy
BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Disease associations (Open Targets)

neurodegenerative disease
0.34
diaphragm disorder
0.28
Blount disease
0.08
tibial hemimelia
0.07
tibia, hypoplasia or aplasia of, with polydactyly
0.07
Absent tibia - polydactyly
0.07
hallux varus-preaxial polysyndactyly syndrome
0.07
Hallux varus - preaxial polysyndactyly
0.07
Syndactyly type 2
0.07
metaphyseal anadysplasia
0.07

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

Protein function (UniProt)

Troponin I, slow skeletal muscle

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