MYLK4

Chr 6

myosin light chain kinase family member 4

Also known as: MLCK4, SgK085

NCBI Gene: 340156 ENSG00000145949 UniProt: Q86YV6 OMIM: 621008

The protein is predicted to function as a myosin light chain kinase involved in signal transduction and is localized to membranes and cytoplasm. MYLK4 mutations cause autosomal recessive congenital myopathy with cardiomyopathy, affecting both skeletal muscle and cardiac function from birth. The gene shows tolerance to loss-of-function variants based on population data.

OMIM ResearchSummary from RefSeq

Predicted to enable myosin light chain kinase activity. Predicted to be involved in signal transduction. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.37

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.37LOEUF

pLI 0.000

Z-score 0.25

OE 0.94 (0.66–1.37)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.78Z-score

OE missense 0.85 (0.76–0.96)

193 obs / 226.0 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.94 (0.66–1.37)

0≤0.351.4

Missense OE?0.85 (0.76–0.96)

0≤0.61.4

Synonymous OE?0.80

0≤1.21.6

LoF obs/exp: 20 / 21.3Missense obs/exp: 193 / 226.0Syn Z: 1.50

Background carrier burden — how many people carry a rare variant somewhere in MYLK4?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 130

528 rare PASS variants

Rare truncating (LoF)

1 in 300

104 rare PASS variants

Rare synonymous (reference)

1 in 120

194 rare PASS variants

Rare missense and truncating variants are carried at similar rates in MYLK4; this gene does not show strong loss-of-function constraint by this measure. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 220	1 in 510
South Asian	~43k	1 in 60	1 in 570
Remaining (unassigned)	~30k	1 in 81	1 in 300
European (Finnish)	~27k	1 in 410	1 in 940
Admixed American	~22k	1 in 86	1 in 1,400
African / African American	~21k	1 in 63	1 in 690
East Asian	~20k	1 in 91	1 in 260
Ashkenazi Jewish	~13k	1 in 830	1 in 470
Middle Eastern	~2,884	1 in 120	≈ 1 in 720

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 11 coding exons well covered in gnomAD exomes and genomes.? see exons ↓