Home > Gene Browser > TCAP

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

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
7
Likely pathogenic
3
VUS
2,179
Likely benign
1,479
Benign
133

Patient phenotypes

Proportions of phenotypes among 10 patients carrying pathogenic or likely pathogenic variants on TCAP gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
50%
Abnormality of head or neck
40%
Abnormality of the musculoskeletal system
40%
Abnormality of the cardiovascular system
30%
Abnormality of the eye
30%
Abnormality of limbs
20%
Abnormality of the immune system
20%
Abnormality of the integument
20%
Growth abnormality
20%
Abnormal cellular phenotype
10%
Abnormality of blood and blood-forming tissues
10%
Abnormality of the ear
10%
Abnormality of the respiratory system
10%
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%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes