Home > Gene Browser > MYH7B

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

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
37
Likely pathogenic
1
VUS
3,731
Likely benign
6,737
Benign
5,179

Patient phenotypes

Proportions of phenotypes among 34 patients carring pathogenic or likely pathogenic variants on MYH7B gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
47.1%
Abnormality of the musculoskeletal system
35.3%
Abnormality of head or neck
32.4%
Abnormality of the eye
29.4%
Abnormality of the ear
20.6%
Abnormality of the cardiovascular system
17.6%
Abnormality of the integument
17.6%
Growth abnormality
17.6%
Abnormality of the genitourinary system
8.8%
Abnormality of the immune system
8.8%
Abnormality of blood and blood-forming tissues
5.9%
Abnormality of limbs
5.9%
Abnormality of prenatal development or birth
5.9%
Abnormality of the digestive system
5.9%
Abnormality of the respiratory system
5.9%
Neoplasm
5.9%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

Have a question or need assistance? Ask here.

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