MYL5
protein-codingmyosin light chain 5, the group of Myosin light chains, class 2
Gene summary
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]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~8.4 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to MYL5 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_002477.2. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 43 | 43 | ||||
| nonsense | 0 | |||||
| start loss | 1 | 1 | ||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 1 | 5 | 6 | |||
| Total | 1 | 0 | 49 | 0 | 0 | 50 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_002468.1 | 7 | MANE Select | |
| Ensembl | ENSP00000383023.2 | 7 | MANE Select | |
| RefSeq | NP_001350579.1 | 5 | Standard | |
| RefSeq | NP_001382370.1 | 7 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Focal adhesion - Homo sapiens (human)
- Regulation of actin cytoskeleton - Homo sapiens (human)
- Leukocyte transendothelial migration - Homo sapiens (human)
- Focal Adhesion
- Smooth Muscle Contraction
Biological Process
- muscle contraction
- regulation of muscle contraction
Molecular Function
- calcium ion binding
- structural constituent of muscle
Cellular Component
- cytosol
- muscle myosin complex
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000400159
- Coding exons
- 7
- Length
- 8454
- Individuals with no LoFs
- 125200
- Homozygous LoFs
- 1
- Heterozygous LoFs
- 259
- Defined
- 125460
- p
- 0.00104
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -0.586 | 114 | 97.7 | 1.17 | 0.00000559 | 1147 |
| Missense (PolyPhen) | 33 | 25.101 | 1.3147 | 320 | ||
| Synonymous | -1.84 | 55 | 40.1 | 1.37 | 0.00000309 | 286 |
| Loss of Function | -2.09 | 16 | 9.17 | 1.74 | 4.72e-7 | 111 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.0069 | 0.0067 | notable |
| Latino/Admixed American | 0.00078 | 0.00078 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.0046 | 0.0044 | notable |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.00026 | 0.00026 | rare |
| South Asian | 0.00033 | 0.00033 | rare |
| Other | 0.00082 | 0.00082 | rare |
dbNSFP Gene Annotations
Source:
Intolerance Scores
- LoFtool
- 0.677
- RVIS EVS
- 1.37
- RVIS percentile EVS
- 94.49
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- H
- Indispensability pred.
- E
- Indispensability score
- 0.762
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |