MYO1B

myosin IB, the group of Myosin heavy chains, class I

Basic information

Region (hg38): 2:191245184-191425389

Links

ENSG00000128641 ∙ NCBI:4430 ∙ OMIM:606537 ∙ HGNC:7596 ∙ Uniprot:O43795 ∙ 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 MYO1B gene.

• Inborn genetic diseases (40 variants)
• not provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MYO1B 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					3	3
missense			39	1	1	41
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	39	1	4

Variants in MYO1B

This is a list of pathogenic ClinVar variants found in the MYO1B region.

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

Position	Type	Phenotype	Significance	ClinVar
2-191296145-C-T		not specified	Uncertain significance (Mar 22, 2023)
2-191296213-C-T			Benign (Jan 08, 2018)
2-191329939-G-T		not specified	Uncertain significance (Jul 12, 2023)
2-191341496-G-A		not specified	Uncertain significance (Feb 14, 2023)
2-191341545-A-G		not specified	Uncertain significance (Jan 22, 2024)
2-191341554-C-T		not specified	Uncertain significance (Jan 26, 2022)
2-191350184-T-G		not specified	Uncertain significance (Aug 02, 2021)
2-191362286-G-C		not specified	Uncertain significance (Oct 22, 2021)
2-191363732-C-T		not specified	Uncertain significance (Apr 13, 2022)
2-191364181-A-G		not specified	Uncertain significance (Aug 17, 2022)
2-191364256-A-G		not specified	Uncertain significance (Mar 24, 2023)
2-191369609-G-A		not specified	Uncertain significance (Jan 26, 2023)
2-191381551-G-C		not specified	Uncertain significance (Apr 25, 2022)
2-191385942-C-T		not specified	Uncertain significance (Mar 01, 2024)
2-191385986-C-T		not specified	Uncertain significance (Aug 17, 2021)
2-191387248-G-A		not specified	Uncertain significance (Jan 27, 2022)
2-191387309-A-G		not specified	Uncertain significance (Nov 08, 2022)
2-191390304-G-A			Benign (Dec 31, 2019)
2-191390422-T-G		not specified	Uncertain significance (Jan 23, 2023)
2-191390444-A-G		not specified	Uncertain significance (Mar 07, 2024)
2-191390479-A-C		not specified	Uncertain significance (Dec 14, 2022)
2-191392161-C-T		not specified	Uncertain significance (Feb 03, 2022)
2-191392172-T-A		not specified	Uncertain significance (Oct 22, 2021)
2-191392188-G-A		not specified	Uncertain significance (Dec 03, 2021)
2-191393083-T-C		not specified	Uncertain significance (Apr 28, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MYO1B	protein_coding	protein_coding	ENST00000392318	30	180205

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000724	1.00	125699	0	49	125748	0.000195

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.43	446	616	0.724	0.0000332	7515
Missense in Polyphen		168	259.8	0.64665		3214
Synonymous	-0.403	227	219	1.03	0.0000118	2050
Loss of Function	5.54	22	73.1	0.301	0.00000410	848

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000361	0.000361
Ashkenazi Jewish	0.00	0.00
East Asian	0.000164	0.000163
Finnish	0.00	0.00
European (Non-Finnish)	0.000283	0.000281
Middle Eastern	0.000164	0.000163
South Asian	0.0000981	0.0000980
Other	0.000330	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Motor protein that may participate in process critical to neuronal development and function such as cell migration, neurite outgrowth and vesicular transport. {ECO:0000250}.

Recessive Scores

• pRec: 0.142

Intolerance Scores

• loftool: 0.0721
• rvis_EVS: -1.22
• rvis_percentile_EVS: 5.67

Haploinsufficiency Scores

• pHI: 0.164
• hipred: Y
• hipred_score: 0.614
• ghis: 0.572

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.899

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Myo1b

Zebrafish Information Network

• Gene name: myo1b
• Affected structure: anterior axial hypoblast
• Phenotype tag: abnormal
• Phenotype quality: increased amount

Gene ontology

• Biological process: post-Golgi vesicle-mediated transport;actin filament organization;actin filament-based movement;actin filament bundle assembly
• Cellular component: cytoplasm;early endosome;actin filament;plasma membrane;brush border;endosome membrane;myosin complex;filopodium;trans-Golgi network membrane;apical part of cell;perinuclear region of cytoplasm;extracellular exosome;cell periphery
• Molecular function: microfilament motor activity;calmodulin binding;ATP binding;phosphatidylinositol-4,5-bisphosphate binding;phosphatidylinositol-3,4,5-trisphosphate binding;actin-dependent ATPase activity;cadherin binding;actin filament binding