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MYH7B

Synonyms
MHC14, MYH14
External resources
Summary
The myosin II molecule is a multi-subunit complex consisting of two heavy chains and four light chains. This gene encodes a heavy chain of myosin II, which is a member of the motor-domain superfamily. The heavy chain includes a globular motor domain, which catalyzes ATP hydrolysis and interacts with actin, and a tail domain in which heptad repeat sequences promote dimerization by interacting to form a rod-like alpha-helical coiled coil. This heavy chain subunit is a slow-twitch myosin. Alternatively spliced transcript variants have been found, but the full-length nature of these variants is not determined.

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
60
Likely pathogenic
1
VUS
8,768
Likely benign
7,339
Benign
14,679

Patient phenotypes

Proportions of phenotypes among 57 patients carrying pathogenic or likely pathogenic variants on MYH7B gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
38.6%
Abnormality of the cardiovascular system
33.3%
Abnormality of the musculoskeletal system
31.6%
Abnormality of head or neck
24.6%
Abnormality of the eye
15.8%
Abnormality of the ear
14%
Abnormality of the integument
14%
Abnormality of the genitourinary system
12.3%
Growth abnormality
8.8%
Abnormality of limbs
7%
Abnormality of the immune system
7%
Abnormality of blood and blood-forming tissues
3.5%
Abnormality of prenatal development or birth
3.5%
Abnormality of the digestive system
3.5%
Abnormality of the respiratory system
3.5%
Neoplasm
3.5%
Abnormality of the endocrine system
1.8%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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