MYL6B

protein-coding

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

Gene summary

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 both slow-twitch skeletal muscle and in nonmuscle tissue. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]

MANE transcript

NM_002475.5

Inheritance

—

ClinVar variants

U:30

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.81

Max pathogenic AF

—

Genomic locus

chr12:56,152,256-56,159,647

External References & Databases

Ensembl (ENSG00000196465)

Transcript & Mutation Effects

hg38 • Region Span ~7.4 kb

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GenCC 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 MYL6B variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 26

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_002475.5. 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			26 clinvar			26
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			4 clinvar			4
Total	0	0	30	0	0	30

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 82 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_002475.5	RefSeq	NP_002466.1	6	MANE Select
ENST00000695999.1	Ensembl	ENSP00000512320.1	6	MANE Select
NM_001199629.2	RefSeq	NP_001186558.1	6	Standard
ENST00000550443.5	Ensembl	ENSP00000446643.1	6	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Oxytocin signaling pathway - Homo sapiens (human)
Tight junction - Homo sapiens (human)
Vascular smooth muscle contraction - Homo sapiens (human)
Smooth Muscle Contraction
Muscle contraction

Biological Process

muscle contraction
skeletal muscle tissue development
muscle filament sliding

Molecular Function

motor activity
calcium ion binding
protein binding
structural constituent of muscle

Cellular Component

cytosol
muscle myosin complex
myosin complex
unconventional myosin complex
extracellular exosome

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000553066
Coding exons: 6
Length: 7392
Individuals with no LoFs: 125719
Homozygous LoFs: 0
Heterozygous LoFs: 27
Defined: 125746
p: 0.000107

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.507	107	123	0.871	0.00000660	1359
Missense (PolyPhen)		29	30.507	0.95059		351
Synonymous	0.660	43	48.9	0.880	0.00000282	407
Loss of Function	0.596	9	11.1	0.807	6.42e-7	123

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.00015	0.00014	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00017	0.00016	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00014	0.00014	rare
South Asian	0.000098	0.000098	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Regulatory light chain of myosin. Does not bind calcium.;

Recessive Scores

pRec: 0.109

Intolerance Scores

LoFtool: 0.449
RVIS EVS: -0.32
RVIS percentile EVS: 31.46

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Indispensability pred.: E
Indispensability score: 0.731

Gene Damage Prediction

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