MYL6B

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

Basic information

Region (hg38): 12:56152256-56159647

Links

ENSG00000196465 ∙ NCBI:140465 ∙ OMIM:609930 ∙ HGNC:29823 ∙ Uniprot:P14649 ∙ 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 MYL6B gene.

• not_specified (22 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MYL6B gene is commonly pathogenic or not. These statistics are base on transcript: NM_000002475.5. 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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			22			22
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			4			4
Total	0	0	26	0	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MYL6B	protein_coding	protein_coding	ENST00000553066	6	7392

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000609	0.470	125719	0	27	125746	0.000107

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.507	107	123	0.871	0.00000660	1359
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000146	0.000146
Ashkenazi Jewish	0.00	0.00
East Asian	0.000170	0.000163
Finnish	0.00	0.00
European (Non-Finnish)	0.000143	0.000141
Middle Eastern	0.000170	0.000163
South Asian	0.0000980	0.0000980
Other	0.00	0.00

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);Smooth Muscle Contraction;Muscle contraction (Consensus)

Recessive Scores

• pRec: 0.109

Intolerance Scores

• loftool: 0.449
• rvis_EVS: -0.32
• rvis_percentile_EVS: 31.46

Haploinsufficiency Scores

• pHI: 0.111
• hipred: N
• hipred_score: 0.248
• ghis: 0.569

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.731

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Myl6b

Gene ontology

• Biological process: muscle contraction;skeletal muscle tissue development;muscle filament sliding
• Cellular component: cytosol;muscle myosin complex;myosin complex;unconventional myosin complex;extracellular exosome
• Molecular function: motor activity;calcium ion binding;protein binding;structural constituent of muscle