MYL1

Chr 2AR

myosin light chain 1

Also known as: CMYO14, CMYP14, MLC-1, MLC1, MLC1/3, MLC1F, MLC3F, MYOFTA

NCBI Gene: 4632ENSG00000168530UniProt: P05976

Myosin is a hexameric ATPase cellular motor protein. It is composed of two heavy chains, two nonphosphorylatable alkali light chains, and two phosphorylatable regulatory light chains. This gene encodes a myosin alkali light chain expressed in fast skeletal muscle. Two transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008]

Primary Disease Associations & Inheritance

Congenital myopathy 14MIM #618414
AR
78
ClinVar variants
24
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— MYL1
🧬
Gene-Disease Validity (ClinGen)
congenital myopathy · ARLimited

Limited evidence — not for standalone diagnostic reporting

⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
24 Pathogenic / Likely Pathogenic· 27 VUS of 78 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.36LOEUF
pLI 0.000
Z-score 0.79
OE 0.73 (0.41–1.36)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.52Z-score
OE missense 0.86 (0.73–1.02)
95 obs / 110.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.73 (0.41–1.36)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.86 (0.73–1.02)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.10
0≤1.21.6
LoF obs/exp: 7 / 9.7Missense obs/exp: 95 / 110.5Syn Z: -0.50

ClinVar Variant Classifications

78 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic23
Likely Pathogenic1
VUS27
Likely Benign9
Benign18
23
Pathogenic
1
Likely Pathogenic
27
VUS
9
Likely Benign
18
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
23
0
23
Likely Pathogenic
0
0
1
0
1
VUS
0
23
4
0
27
Likely Benign
1
3
2
3
9
Benign
2
1
15
0
18
Total32745378

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

MYL1 · protein map & ClinVar variants

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

Gene2Phenotype Curations

MYL1-related myopathy, congenital, with fast-twitch (type II) fiber atrophy

limited
ARLoss Of FunctionAbsent Gene Product
Dev. Disorders
G2P ↗

Gene2Phenotype curations · DECIPHER consortium patient cohort (public variants) · deciphergenomics.org

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM

Congenital myopathy 14

MIM #618414

Molecular basis of disorder known

Autosomal recessive
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Comprehensive bioinformatics and machine learning analyses for breast cancer staging using TCGA dataset.
Das SC et al.·Brief Bioinform
2024
MYL1-Related Congenital Myopathy: Clinical, Genetic and Pathological Insights.
Madrigal I et al.·Neuropathol Appl Neurobiol
2025Case report
MYBPC2 and MYL1 as Significant Gene Markers for Rhabdomyosarcoma.
Chen Z et al.·Technol Cancer Res Treat
2021
Bi-allelic mutations in MYL1 cause a severe congenital myopathy.
Ravenscroft G et al.·Hum Mol Genet
2018
Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services.
Roberts JL et al.·Gene
2014
Expression profile of diagnostic genes in oral submucous fibrosis.
Srivastava P et al.·Pathol Res Pract
2024
Screening of hub genes and immunocytes related to tendon injury based on bioinformatics and machine learning models.
Sun S et al.·Sci Rep
2025Functional
Evaluation of Parameters for Cancer-Induced Sarcopenia in Patients Autopsied after Death from Colorectal Cancer.
Ohmori H et al.·Pathobiology
2019Cohort
RNA-Seq analysis reveals sex-dependent transcriptomic profiles of human subacromial bursa stratified by tear etiology.
Rai MF et al.·J Orthop Res
2022
Modifier locus of the skeletal muscle involvement in Emery-Dreifuss muscular dystrophy.
Granger B et al.·Hum Genet
2011
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools