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MYLK3

Synonyms
MLCK, MLCK2, caMLCK
External resources
Summary
Phosphorylation of cardiac myosin heavy chains (see MYH7B, MIM 609928) and light chains (see MYL2, MIM 160781) by a kinase, such as MYLK3, potentiates the force and rate of cross-bridge recruitment in cardiac myocytes (Chan et al., 2008

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
23
Likely pathogenic
0
VUS
2,499
Likely benign
102
Benign
0

Patient phenotypes

Proportions of phenotypes among 23 patients carring pathogenic or likely pathogenic variants on MYLK3 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
39.1%
Abnormality of the eye
30.4%
Abnormality of head or neck
26.1%
Abnormality of the ear
21.7%
Abnormality of the musculoskeletal system
17.4%
Growth abnormality
13%
Abnormality of the integument
8.7%
Abnormality of limbs
4.3%
Abnormality of prenatal development or birth
4.3%
Abnormality of the cardiovascular system
4.3%
Abnormality of the genitourinary system
4.3%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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