Home > Gene Browser > MYH7

MYH7

Synonyms
CMD1S, CMH1, MPD1, MYHCB, SPMD, SPMM
External resources
Summary
Muscle myosin is a hexameric protein containing 2 heavy chain subunits, 2 alkali light chain subunits, and 2 regulatory light chain subunits. This gene encodes the beta (or slow) heavy chain subunit of cardiac myosin. It is expressed predominantly in normal human ventricle. It is also expressed in skeletal muscle tissues rich in slow-twitch type I muscle fibers. Changes in the relative abundance of this protein and the alpha (or fast) heavy subunit of cardiac myosin correlate with the contractile velocity of cardiac muscle. Its expression is also altered during thyroid hormone depletion and hemodynamic overloading. Mutations in this gene are associated with familial hypertrophic cardiomyopathy, myosin storage myopathy, dilated cardiomyopathy, and Laing early-onset distal myopathy.

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
26
Likely pathogenic
16
VUS
2,660
Likely benign
6,019
Benign
62

Patient Phenotypes

Proportions of phenotypes among 42 patients carrying pathogenic or likely pathogenic variants on MYH7 gene are displayed below. The following symptoms were found in patients with a variant in MYH7. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the cardiovascular system
40.5%
Abnormality of the musculoskeletal system
26.2%
Abnormality of the nervous system
19%
Abnormality of head or neck
16.7%
Abnormality of the eye
14.3%
Growth abnormality
9.5%
Abnormality of limbs
7.1%
Abnormality of metabolism homeostasis
7.1%
Abnormality of prenatal development or birth
7.1%
Abnormality of the ear
7.1%
Abnormality of the genitourinary system
7.1%
Abnormality of the integument
7.1%
Abnormality of the endocrine system
4.8%
Abnormality of the immune system
4.8%
Abnormality of blood and blood forming tissues
2.4%
Abnormality of the digestive system
2.4%
Abnormal cellular phenotype
0%
Abnormality of the breast
0%
Abnormality of the respiratory 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.