MYO1H

protein-coding

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

Gene summary

Predicted to enable actin filament binding activity and microfilament motor activity. Predicted to be involved in actin filament organization; actin filament-based movement; and endocytosis. Predicted to be located in actin filament. Predicted to be part of myosin complex. Predicted to be active in several cellular components, including actin cytoskeleton; microvillus; and plasma membrane. Implicated in congenital central hypoventilation syndrome. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_001101421.4

Inheritance

AR, AD

ClinVar variants

P:7U:182B:18

Top phenotype

Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction

gnomAD constraint

pLI —, LoF o/e 0.75

Max pathogenic AF

—

Genomic locus

chr12:109,347,900-109,455,523

External References & Databases

Ensembl (ENSG00000174527)

Transcript & Mutation Effects

hg38 • Region Span ~107.6 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

central hypoventilation syndrome, congenital, 2, and autonomic dysfunctionLIMITED

Inheritance Pattern: AR

Disease ID:MONDO:0030537

Submitter: Labcorp Genetics (formerly Invitae)

central hypoventilation syndrome, congenital, 2, and autonomic dysfunctionLIMITED

Inheritance Pattern: AR

Disease ID:MONDO:0030537

Submitter: PanelApp Australia

congenital central hypoventilation syndromeSUPPORTIVE

Inheritance Pattern: AD

Disease ID:MONDO:0008852

Submitter: Orphanet

Clinical Genomic Database (CGD)

Central hypoventilation syndrome, congenital, 2, and autonomic dysfunctionAR

Manifestation: Neurologic

Intervention: Neurologic

Rationale: The condition has been described as involving a lack of ventilatory response to high carbon dioxide levels, and interventions for respiratory support, including tracheostomy, have been reported as necessary

Refs: 28779001

Source: CGD (NHGRI)

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to MYO1H variants in ClinVar

4 Conditions Cataloged

not specifiedTotal: 186

Central hypoventilation syndrome, congenital, 2, and autonomic dysfunctionTotal: 18

not providedTotal: 16

Multiple congenital anomalies/dysmorphic syndrome-intellectual disabilityTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001101421.4. 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				5 clinvar		5
missense			173 clinvar	8 clinvar	3 clinvar	184
nonsense		3 clinvar	2 clinvar	1 clinvar		6
start loss						0
frameshift		3 clinvar	4 clinvar			7
splice donor/acceptor (+/-2bp)		1 clinvar	3 clinvar	1 clinvar		5
Total	0	7	182	15	3	207

Highest pathogenic variant AF is 0.00005598526

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 5 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001101421.4	RefSeq	NP_001094891.4	32	MANE Select
ENST00000310903.10	Ensembl	ENSP00000439182.2	32	MANE Select
ENST00000543960.1	Ensembl	ENSP00000474025.1	5	Standard
XM_011538223.3	RefSeq	XP_011536525.1	32	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

motor activity
actin binding
ATP binding

Cellular Component

myosin complex

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000310903
Coding exons: 31
Length: 107621
Individuals with no LoFs: 124366
Homozygous LoFs: 0
Heterozygous LoFs: 290
Defined: 124656
p: 0.00116

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.652	520	564	0.923	0.0000326	6674
Missense (PolyPhen)		196	223.42	0.87726		2610
Synonymous	0.719	202	215	0.938	0.0000130	1884
Loss of Function	1.80	47	62.3	0.754	0.00000324	762

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0011	0.0011	notable
Latino/Admixed American	0.00063	0.00061	rare
Ashkenazi Jewish	0.0019	0.0019	notable
East Asian	0.0018	0.0018	notable
Finnish	0.00051	0.00051	rare
European (Non-Finnish)	0.00098	0.00096	rare
South Asian	0.0025	0.0023	notable
Other	0.0018	0.0018	notable

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails are presumed to bind to membranous compartments, which would be moved relative to actin filaments (By similarity). {ECO:0000250}.;

Intolerance Scores

LoFtool: 0.368
RVIS EVS: -0.55
RVIS percentile EVS: 20

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Indispensability pred.: N
Indispensability score: 0.166

Gene Damage Prediction

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