MYO3B

myosin IIIB, the group of Myosin heavy chains, class III

Basic information

Region (hg38): 2:170178144-170655171

Links

ENSG00000071909 ∙ NCBI:140469 ∙ OMIM:610040 ∙ HGNC:15576 ∙ Uniprot:Q8WXR4 ∙ 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 MYO3B gene.

• Inborn genetic diseases (64 variants)
• not provided (7 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MYO3B 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				1	1	2
missense			61	3	2	66
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					2	2
non coding						0
Total	0	0	61	4	3

Variants in MYO3B

This is a list of pathogenic ClinVar variants found in the MYO3B region.

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

Position	Type	Phenotype	Significance	ClinVar
2-170199284-T-C		not specified	Uncertain significance (May 24, 2023)
2-170200166-T-C		not specified	Uncertain significance (May 17, 2023)
2-170200190-A-G		not specified	Uncertain significance (Dec 15, 2023)
2-170200244-C-T		not specified	Uncertain significance (Aug 16, 2021)
2-170200246-G-C		not specified	Uncertain significance (Mar 06, 2023)
2-170200248-T-A		not specified	Uncertain significance (Jun 06, 2023)
2-170200274-T-A		not specified	Uncertain significance (Nov 08, 2022)
2-170214397-G-T		not specified	Uncertain significance (Oct 25, 2022)
2-170214400-A-T		not specified	Uncertain significance (Aug 30, 2022)
2-170214436-C-T		Inborn genetic diseases	Uncertain significance (Dec 06, 2021)
2-170214437-G-A		not specified	Likely benign (Feb 22, 2023)
2-170214451-A-G		not specified	Likely benign (Jun 22, 2023)
2-170214740-T-A		not specified	Uncertain significance (Feb 15, 2023)
2-170214741-T-A		not specified	Uncertain significance (Feb 15, 2023)
2-170214765-C-T		not specified	Uncertain significance (Nov 02, 2023)
2-170217316-T-C			Benign (Aug 15, 2017)
2-170217333-C-A		not specified	Uncertain significance (Jul 05, 2022)
2-170217346-G-A			Likely benign (Nov 01, 2022)
2-170217351-C-T		not specified	Uncertain significance (Jan 08, 2024)
2-170217377-G-A			Benign (Mar 03, 2015)
2-170236001-G-A		not specified	Uncertain significance (Jan 25, 2023)
2-170236042-G-A		not specified	Uncertain significance (Apr 25, 2023)
2-170236091-C-A		not specified	Uncertain significance (Nov 10, 2022)
2-170335390-C-T		not specified	Uncertain significance (Nov 17, 2023)
2-170335435-A-G			not provided (-)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MYO3B	protein_coding	protein_coding	ENST00000408978	35	477027

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.03e-36	0.00307	124554	0	243	124797	0.000974

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.109	726	734	0.989	0.0000385	8799
Missense in Polyphen		235	247.82	0.94828		3018
Synonymous	-0.662	275	261	1.05	0.0000139	2526
Loss of Function	1.61	64	79.5	0.805	0.00000428	918

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00222	0.00220
Ashkenazi Jewish	0.000199	0.000199
East Asian	0.00150	0.00150
Finnish	0.0000464	0.0000464
European (Non-Finnish)	0.000905	0.000901
Middle Eastern	0.00150	0.00150
South Asian	0.00148	0.00147
Other	0.00132	0.00132

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Probable actin-based motor with a protein kinase activity. Required for normal cochlear hair bundle development and hearing. Plays an important role in the early steps of cochlear hair bundle morphogenesis. Influences the number and lengths of stereocilia to be produced and limits the growth of microvilli within the forming auditory hair bundles thereby contributing to the architecture of the hair bundle, including its staircase pattern. Involved in the elongation of actin in stereocilia tips by transporting the actin regulatory factor ESPN to the plus ends of actin filaments. {ECO:0000250|UniProtKB:Q1EG27}.

Intolerance Scores

• loftool: 0.231
• rvis_EVS: 2.33
• rvis_percentile_EVS: 98.38

Haploinsufficiency Scores

• pHI: 0.181
• hipred: Y
• hipred_score: 0.544

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0764

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Myo3b
• Phenotype: nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Gene ontology

• Biological process: protein phosphorylation;visual perception;sensory perception of sound;response to stimulus;cochlea morphogenesis
• Cellular component: cytoplasm;myosin complex;stereocilium tip
• Molecular function: motor activity;actin binding;protein serine/threonine kinase activity;ATP binding