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MYH1

Synonyms
HEL71, MYHSA1, MYHa, MyHC-2X/D, MyHC-2x
External resources
Summary
Myosin is a major contractile protein which converts chemical energy into mechanical energy through the hydrolysis of ATP. Myosin is a hexameric protein composed of a pair of myosin heavy chains (MYH) and two pairs of nonidentical light chains. Myosin heavy chains are encoded by a multigene family. In mammals at least 10 different myosin heavy chain (MYH) isoforms have been described from striated, smooth, and nonmuscle cells. These isoforms show expression that is spatially and temporally regulated during development.

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
72
Likely pathogenic
120
VUS
4,885
Likely benign
5,471
Benign
469

Patient Phenotypes

Proportions of phenotypes among 188 patients carrying pathogenic or likely pathogenic variants on MYH1 gene are displayed below. The following symptoms were found in patients with a variant in MYH1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
35.6%
Abnormality of the musculoskeletal system
26.6%
Abnormality of the eye
21.8%
Abnormality of head or neck
21.3%
Abnormality of the ear
16.5%
Abnormality of the cardiovascular system
16%
Growth abnormality
14.4%
Abnormality of the genitourinary system
9.6%
Abnormality of limbs
9%
Abnormality of the integument
8.5%
Abnormality of metabolism homeostasis
6.4%
Abnormality of the digestive system
5.3%
Abnormality of blood and blood forming tissues
4.8%
Abnormality of the immune system
4.8%
Abnormality of the respiratory system
4.3%
Abnormality of the endocrine system
3.7%
Abnormality of prenatal development or birth
2.7%
Abnormality of the breast
1.1%
Abnormality of the voice
1.1%
Neoplasm
1.1%
Abnormal cellular phenotype
0.5%
Constitutional symptom
0.5%
Abnormality of the thoracic cavity
0%

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