MYH15

protein-coding

myosin heavy chain 15, the group of Myosin heavy chains, class II

Gene summary

Predicted to enable actin filament binding activity and microfilament motor activity. Predicted to be involved in extraocular skeletal muscle development. Predicted to be located in myofibril. Predicted to be part of myosin II complex. Predicted to be active in cytoplasm and myosin filament. Implicated in stroke. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_014981.3

Inheritance

—

ClinVar variants

U:280B:48

Top phenotype

Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome

gnomAD constraint

pLI —, LoF o/e 0.9

Max pathogenic AF

—

Genomic locus

chr3:108,380,368-108,529,322

External References & Databases

Ensembl (ENSG00000144821)

Transcript & Mutation Effects

hg38 • Region Span ~149.0 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to MYH15 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 298

not providedTotal: 36

Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndromeTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_014981.3. 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				8 clinvar	7 clinvar	15
missense			277 clinvar	26 clinvar	5 clinvar	308
nonsense			1 clinvar	1 clinvar		2
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar		1 clinvar	3
Total	0	0	280	35	13	328

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 8 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_014981.3	RefSeq	NP_055796.2	41	MANE Select
ENST00000693548.1	Ensembl	ENSP00000508967.1	41	MANE Select
ENST00000273353.5	Ensembl	ENSP00000273353.4	41	Standard
ENST00000273353.6	Ensembl	ENSP00000273353.4	41	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Tight junction - Homo sapiens (human)

Biological Process

extraocular skeletal muscle development

Molecular Function

motor activity
calmodulin binding
ATP binding
actin filament binding

Cellular Component

myofibril
myosin filament

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000273353
Coding exons: 42
Length: 148954
Individuals with no LoFs: 125220
Homozygous LoFs: 0
Heterozygous LoFs: 119
Defined: 125339
p: 0.000475

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.0988	998	989	1.01	0.0000505	12904
Missense (PolyPhen)		290	291.19	0.9959		4407
Synonymous	1.31	330	362	0.912	0.0000181	3496
Loss of Function	1.00	96	107	0.896	0.00000545	1331

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00013	0.00013	rare
Latino/Admixed American	0.00068	0.00064	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.0016	0.0016	notable
Finnish	0.000047	0.000046	rare
European (Non-Finnish)	0.00040	0.00040	rare
South Asian	0.00053	0.00052	rare
Other	0.00067	0.00066	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Muscle contraction. {ECO:0000250}.;

Recessive Scores

pRec: 0.0911

Intolerance Scores

LoFtool: 0.196
RVIS EVS: 0.46
RVIS percentile EVS: 78.6

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.109

Gene Damage Prediction

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