GeneBe

MYL6

myosin light chain 6, the group of Myosin light chains, class 1

Basic information

Region (hg38): 12:56158346-56163496

Links

ENSG00000092841 ∙ NCBI:4637 ∙ OMIM:609931 ∙ HGNC:7587 ∙ Uniprot:P60660 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MYL6 gene.

  • not_specified (15 variants)
  • EBV-positive_nodal_T-_and_NK-cell_lymphoma (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MYL6 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000021019.5. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
0
missense
15
clinvar
 15
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 15 0 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
MYL6protein_codingprotein_codingENST00000550697 65336
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
0.0006530.7531257110371257480.000147
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.8546486.30.7410.000004241007
Missense in Polyphen610.3350.58058149
Synonymous0.9302733.90.7970.00000172275
Loss of Function0.96669.160.6554.40e-7106

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0002640.000264
Ashkenazi Jewish0.000.00
East Asian0.0008700.000870
Finnish0.00004620.0000462
European (Non-Finnish)0.00007920.0000791
Middle Eastern0.0008700.000870
South Asian0.00003270.0000327
Other0.0003260.000326

dbNSFP

Source: dbNSFP

Function
FUNCTION: Regulatory light chain of myosin. Does not bind calcium.;
Pathway
Oxytocin signaling pathway - Homo sapiens (human);Tight junction - Homo sapiens (human);Vascular smooth muscle contraction - Homo sapiens (human);Developmental Biology;Smooth Muscle Contraction;Signal Transduction;EPH-Ephrin signaling;EPHA-mediated growth cone collapse;RHO GTPases Activate ROCKs;RHO GTPases activate PAKs;RHO GTPases activate PKNs;RHO GTPases activate CIT;Muscle contraction;RHO GTPase Effectors;Signaling by Rho GTPases;Sema4D induced cell migration and growth-cone collapse;Sema4D in semaphorin signaling;Semaphorin interactions;Axon guidance (Consensus)

Recessive Scores

pRec
0.171

Intolerance Scores

loftool
0.324
rvis_EVS
0.28
rvis_percentile_EVS
71.08

Haploinsufficiency Scores

pHI
0.177
hipred
Y
hipred_score
0.665
ghis
0.535

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
S
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.585

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Myl6
Phenotype

Gene ontology

Biological process
muscle contraction;skeletal muscle tissue development;muscle filament sliding
Cellular component
cytosol;brush border;membrane;myosin complex;unconventional myosin complex;vesicle;extracellular exosome
Molecular function
motor activity;calcium ion binding;protein binding;structural constituent of muscle;actin-dependent ATPase activity