MYL5

Chr 4

myosin light chain 5

Also known as: MYLC2

This gene encodes one of the myosin light chains, a component of the hexameric ATPase cellular motor protein myosin. Myosin is composed of two heavy chains, two nonphosphorylatable alkali light chains, and two phosphorylatable regulatory light chains. This gene product, one of the regulatory light chains, is expressed in fetal muscle and in adult retina, cerebellum, and basal ganglia. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…
0
Active trials
1
Pubs (1 yr)
P/LP submissions
P/LP missense
1.96
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.96LOEUF
pLI 0.000
Z-score -2.09
OE 1.74 (1.121.96)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.59Z-score
OE missense 1.17 (1.001.36)
114 obs / 97.7 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.74 (1.121.96)
00.351.4
Missense OE?1.17 (1.001.36)
00.61.4
Synonymous OE?1.37
01.21.6
LoF obs/exp: 16 / 9.2Missense obs/exp: 114 / 97.7Syn Z: -1.84

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

MYL5 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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