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.

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.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			6			6
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	6	0	0

Variants in MYL6

This is a list of pathogenic ClinVar variants found in the MYL6 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
12-56158684-T-C		not specified	Uncertain significance (Jul 14, 2021)
12-56158687-G-A		not specified	Uncertain significance (Oct 05, 2022)
12-56159650-G-A		not specified	Uncertain significance (Mar 02, 2023)
12-56160139-G-C		not specified	Uncertain significance (Sep 27, 2021)
12-56160243-G-A		not specified	Uncertain significance (Mar 29, 2023)
12-56160629-T-C		not specified	Uncertain significance (Aug 02, 2021)
12-56160647-C-T		not specified	Uncertain significance (Sep 30, 2024)
12-56160674-C-T		EBV-positive nodal T- and NK-cell lymphoma	Likely benign (-)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MYL6	protein_coding	protein_coding	ENST00000550697	6	5336

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000653	0.753	125711	0	37	125748	0.000147

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.854	64	86.3	0.741	0.00000424	1007
Missense in Polyphen		6	10.335	0.58058		149
Synonymous	0.930	27	33.9	0.797	0.00000172	275
Loss of Function	0.966	6	9.16	0.655	4.40e-7	106

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000264	0.000264
Ashkenazi Jewish	0.00	0.00
East Asian	0.000870	0.000870
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000792	0.0000791
Middle Eastern	0.000870	0.000870
South Asian	0.0000327	0.0000327
Other	0.000326	0.000326

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

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Myl6

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