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TNNT1

Synonyms
ANM, NEM5, STNT, TNT, TNTS
External resources
Summary
This gene encodes a protein that is a subunit of troponin, which is a regulatory complex located on the thin filament of the sarcomere. This complex regulates striated muscle contraction in response to fluctuations in intracellular calcium concentration. This complex is composed of three subunits: troponin C, which binds calcium, troponin T, which binds tropomyosin, and troponin I, which is an inhibitory subunit. This protein is the slow skeletal troponin T subunit. Mutations in this gene cause nemaline myopathy type 5, also known as Amish nemaline myopathy, a neuromuscular disorder characterized by muscle weakness and rod-shaped, or nemaline, inclusions in skeletal muscle fibers which affects infants, resulting in death due to respiratory insufficiency, usually in the second year. Multiple transcript variants encoding different isoforms have been found for this gene.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
21
Likely pathogenic
0
VUS
5,992
Likely benign
2,321
Benign
1

Patient phenotypes

Proportions of phenotypes among 21 patients carrying pathogenic or likely pathogenic variants on TNNT1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
42.9%
Abnormality of the nervous system
33.3%
Abnormality of the cardiovascular system
19%
Abnormality of the endocrine system
19%
Abnormality of the musculoskeletal system
19%
Abnormality of head or neck
14.3%
Abnormality of limbs
14.3%
Abnormality of the ear
14.3%
Neoplasm
14.3%
Abnormality of the genitourinary system
9.5%
Abnormality of the integument
9.5%
Growth abnormality
9.5%
Abnormality of the breast
4.8%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the digestive system
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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