Home > Gene Browser > TPM1
TPM1
- Synonyms
- C15orf13, CMD1Y, CMH3, HEL-S-265, HTM-alpha, LVNC9, TMSA
- External resources
- NCBI7168
- OMIM191010
- EnsemblENSG00000140416
- HGNCHGNC:12010
- Summary
- This gene is a member of the tropomyosin family of highly conserved, widely distributed actin-binding proteins involved in the contractile system of striated and smooth muscles and the cytoskeleton of non-muscle cells. Tropomyosin is composed of two alpha-helical chains arranged as a coiled-coil. It is polymerized end to end along the two grooves of actin filaments and provides stability to the filaments. The encoded protein is one type of alpha helical chain that forms the predominant tropomyosin of striated muscle, where it also functions in association with the troponin complex to regulate the calcium-dependent interaction of actin and myosin during muscle contraction. In smooth muscle and non-muscle cells, alternatively spliced transcript variants encoding a range of isoforms have been described. Mutations in this gene are associated with type 3 familial hypertrophic cardiomyopathy.
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
- 2
- Likely pathogenic
- 13
- VUS
- 5,277
- Likely benign
- 2,122
- Benign
- 3,886
Patient phenotypes
Proportions of phenotypes among 15 patients carrying pathogenic or likely pathogenic variants on TPM1 gene are displayed below.
- Phenotype class
- Patients in 3billion (%)
- Abnormality of the cardiovascular system
- 86.7%
- Abnormality of the genitourinary system
- 20%
- Abnormality of the nervous system
- 13.3%
- Abnormality of head or neck
- 6.7%
- Abnormality of the digestive system
- 6.7%
- Abnormality of the eye
- 6.7%
- Abnormality of the immune system
- 6.7%
- Abnormality of the integument
- 6.7%
- Abnormality of the respiratory system
- 6.7%
- Constitutional symptom
- 6.7%
- Abnormal cellular phenotype
- 0%
- Abnormality of blood and blood-forming tissues
- 0%
- Abnormality of limbs
- 0%
- Abnormality of metabolism homeostasis
- 0%
- Abnormality of prenatal development or birth
- 0%
- Abnormality of the breast
- 0%
- Abnormality of the ear
- 0%
- Abnormality of the endocrine system
- 0%
- Abnormality of the musculoskeletal system
- 0%
- Abnormality of the thoracic cavity
- 0%
- Abnormality of the voice
- 0%
- Growth abnormality
- 0%
- Neoplasm
- 0%
Have a question or need assistance? Ask here.
Send us your questions or comments related to the variant counts and/or patient phenotypes