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TNNT3

Synonyms
DA2B2, TNTF, beta-TnTF
External resources
Summary
The binding of Ca(2+) to the trimeric troponin complex initiates the process of muscle contraction. Increased Ca(2+) concentrations produce a conformational change in the troponin complex that is transmitted to tropomyosin dimers situated along actin filaments. The altered conformation permits increased interaction between a myosin head and an actin filament which, ultimately, produces a muscle contraction. The troponin complex has protein subunits C, I, and T. Subunit C binds Ca(2+) and subunit I binds to actin and inhibits actin-myosin interaction. Subunit T binds the troponin complex to the tropomyosin complex and is also required for Ca(2+)-mediated activation of actomyosin ATPase activity. There are 3 different troponin T genes that encode tissue-specific isoforms of subunit T for fast skeletal-, slow skeletal-, and cardiac-muscle. This gene encodes fast skeletal troponin T protein; also known as troponin T type 3. Alternative splicing results in multiple transcript variants encoding additional distinct troponin T type 3 isoforms. A developmentally regulated switch between fetal/neonatal and adult troponin T type 3 isoforms occurs. Additional splice variants have been described but their biological validity has not been established. Mutations in this gene may cause distal arthrogryposis multiplex congenita type 2B (DA2B).

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
11
Likely pathogenic
0
VUS
3,402
Likely benign
11,174
Benign
3,096

Patient phenotypes

Proportions of phenotypes among 11 patients carrying pathogenic or likely pathogenic variants on TNNT3 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the genitourinary system
36.4%
Abnormality of the integument
36.4%
Abnormality of the cardiovascular system
27.3%
Abnormality of the ear
27.3%
Abnormality of the musculoskeletal system
27.3%
Growth abnormality
27.3%
Abnormality of head or neck
18.2%
Abnormality of limbs
18.2%
Abnormality of the immune system
18.2%
Abnormality of the breast
9.1%
Abnormality of the digestive system
9.1%
Abnormality of the endocrine system
9.1%
Abnormality of the eye
9.1%
Abnormality of the nervous system
9.1%
Abnormality of the respiratory system
9.1%
Neoplasm
9.1%
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 thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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