MYLK3

Chr 16

myosin light chain kinase 3

Also known as: MLCK, MLCK2, caMLCK

NCBI Gene: 91807ENSG00000140795UniProt: Q32MK0OMIM: 612147

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 [PubMed 18202317]).[supplied by OMIM, Jul 2008]

OMIMResearchGenerating clinical summary…

Clinical highlights

Gene-disease validity (ClinGen)
dilated cardiomyopathy · ADModerateconsider for supplementary testing
1
Active trials
10
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.72
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.72LOEUF
pLI 0.000
Z-score 2.83
OE 0.47 (0.32–0.72)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.50Z-score
OE missense 0.94 (0.86–1.01)
447 obs / 477.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.47 (0.32–0.72)
0≤0.351.4
Missense OE?0.94 (0.86–1.01)
0≤0.61.4
Synonymous OE?1.04
0≤1.21.6
LoF obs/exp: 16 / 33.7Missense obs/exp: 447 / 477.9Syn Z: -0.51

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

MYLK3 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients