MYO1A

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

Basic information

Region (hg38): 12:57028517-57051198

Previous symbols: [ "MYHL", "DFNA48", "BBMI" ]

Links

ENSG00000166866

∙ NCBI:4640 ∙ OMIM:601478 ∙ HGNC:7595 ∙ Uniprot:Q9UBC5 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

nonsyndromic genetic hearing loss (Refuted Evidence), mode of inheritance: AD

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Deafness, autosomal dominant 48	AD	Audiologic/Otolaryngologic	Early recognition and treatment of hearing impairment may improve outcomes, including speech and language development	Audiologic/Otolaryngologic	12596055; 12736868
The condition has variable age of onset and severity

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MYO1A gene.

not_specified (170 variants)
not_provided (59 variants)
MYO1A-related_disorder (13 variants)
Autosomal_dominant_nonsyndromic_hearing_loss_48 (10 variants)
Nonsyndromic_Hearing_Loss,_Dominant (3 variants)
Congenital_diarrhea (2 variants)
Diarrhea_15,_congenital (2 variants)
Prostate_cancer (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MYO1A gene is commonly pathogenic or not. These statistics are base on transcript: NM_000005379.4. 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	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				15 clinvar	2 clinvar	17
missense		1 clinvar	132 clinvar	33 clinvar	4 clinvar	170
nonsense				1 clinvar	1 clinvar	2
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)				2 clinvar		2
Total	0	1	132	51	7

Highest pathogenic variant AF is 0.0000068153

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MYO1A	protein_coding	protein_coding	ENST00000442789	27	22682

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
8.90e-46	3.48e-8	124283	7	1458	125748	0.00584

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.495	588	555	1.06	0.0000340	6804
Missense in Polyphen		236	210.32	1.1221		2618
Synonymous	0.333	216	222	0.972	0.0000130	2029
Loss of Function	-0.578	66	61.1	1.08	0.00000375	710

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0100	0.0100
Ashkenazi Jewish	0.00636	0.00637
East Asian	0.00517	0.00518
Finnish	0.00342	0.00342
European (Non-Finnish)	0.00621	0.00604
Middle Eastern	0.00517	0.00518
South Asian	0.00686	0.00682
Other	0.00719	0.00703

dbNSFP

Source: dbNSFP

Function: FUNCTION: Involved in directing the movement of organelles along actin filaments. {ECO:0000305}.;

Recessive Scores

pRec: 0.0981

Intolerance Scores

loftool: 0.187
rvis_EVS: 0.79
rvis_percentile_EVS: 87.31

Haploinsufficiency Scores

pHI: 0.0697
hipred: N
hipred_score: 0.200
ghis

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: Myo1a
Phenotype: digestive/alimentary phenotype;

Gene ontology

Biological process: sensory perception of sound;microvillus assembly;vesicle localization
Cellular component: cytoplasm;microvillus;brush border;basal plasma membrane;basolateral plasma membrane;apical plasma membrane;lateral plasma membrane;myosin complex;cortical actin cytoskeleton;filamentous actin;plasma membrane raft
Molecular function: motor activity;calmodulin binding;ATP binding;actin filament binding