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MYLK2

Synonyms
KMLC, MLCK, MLCK2, skMLCK
External resources
Summary
This gene encodes a myosin light chain kinase, a calcium/calmodulin dependent enzyme, that is exclusively expressed in adult skeletal muscle.

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
20
Likely pathogenic
0
VUS
1,948
Likely benign
839
Benign
861

Patient phenotypes

Proportions of phenotypes among 20 patients carring pathogenic or likely pathogenic variants on MYLK2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
35%
Abnormality of the musculoskeletal system
30%
Abnormality of head or neck
20%
Abnormality of the ear
20%
Abnormality of limbs
15%
Abnormality of the cardiovascular system
15%
Abnormality of the integument
10%
Growth abnormality
10%
Abnormality of the endocrine system
5%
Abnormality of the eye
5%
Abnormality of the genitourinary system
5%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive 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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