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TCAP

Synonyms
CMD1N, CMH25, LGMD2G, LGMDR7, T-cap, TELE, telethonin
External resources
Summary
Sarcomere assembly is regulated by the muscle protein titin. Titin is a giant elastic protein with kinase activity that extends half the length of a sarcomere. It serves as a scaffold to which myofibrils and other muscle related proteins are attached. This gene encodes a protein found in striated and cardiac muscle that binds to the titin Z1-Z2 domains and is a substrate of titin kinase, interactions thought to be critical to sarcomere assembly. Mutations in this gene are associated with limb-girdle muscular dystrophy type 2G.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
5
Likely pathogenic
1
VUS
596
Likely benign
355
Benign
132

Patient phenotypes

Proportions of phenotypes among 6 patients carring pathogenic or likely pathogenic variants on TCAP gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
66.7%
Abnormality of head or neck
50%
Abnormality of the cardiovascular system
50%
Abnormality of the musculoskeletal system
50%
Abnormality of limbs
33.3%
Abnormality of the eye
33.3%
Abnormality of the ear
16.7%
Abnormality of the immune system
16.7%
Abnormality of the integument
16.7%
Abnormality of the respiratory system
16.7%
Growth abnormality
16.7%
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 breast
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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