MYBPH

protein-coding

myosin binding protein H, the group of I-set domain containing|Myosin binding proteins

Gene summary

Predicted to be a structural constituent of muscle. Predicted to be involved in sarcomere organization. Predicted to be located in myosin filament. Predicted to be active in M band. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_004997.3

Inheritance

—

ClinVar variants

U:81B:7

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.89

Max pathogenic AF

—

Genomic locus

chr1:203,167,811-203,175,826

External References & Databases

Ensembl (ENSG00000133055)

Transcript & Mutation Effects

hg38 • Region Span ~8.0 kb

Loading mutation effect viewer...

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 MYBPH variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 81

not providedTotal: 4

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_004997.3. 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					2 clinvar	2
missense			77 clinvar	5 clinvar		82
nonsense			1 clinvar			1
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	81	5	2	88

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 14 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_004997.3	RefSeq	NP_004988.2	10	MANE Select
ENST00000255416.9	Ensembl	ENSP00000255416.4	10	MANE Select
ENST00000966288.1	Ensembl	ENSP00000636347.1	10	Standard
ENST00000966288.2	Ensembl	ENSP00000636347.1	10	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

G13 Signaling Pathway

Biological Process

regulation of striated muscle contraction
cell adhesion

Molecular Function

protein binding
structural constituent of muscle

Cellular Component

myosin filament

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000255416
Coding exons: 10
Length: 8003
Individuals with no LoFs: 125559
Homozygous LoFs: 2
Heterozygous LoFs: 187
Defined: 125748
p: 0.000752

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.329	262	277	0.944	0.0000164	3032
Missense (PolyPhen)		78	79.702	0.97865		893
Synonymous	0.154	113	115	0.982	0.00000694	993
Loss of Function	0.497	21	23.6	0.890	0.00000126	257

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0016	0.0016	notable
Latino/Admixed American	0.00035	0.00035	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00071	0.00071	rare
Finnish	0.00028	0.00028	rare
European (Non-Finnish)	0.00067	0.00066	rare
South Asian	0.0019	0.0018	notable
Other	0.00033	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Binds to myosin; probably involved in interaction with thick myofilaments in the A-band.;

Recessive Scores

pRec: 0.118

Intolerance Scores

LoFtool: 0.826
RVIS EVS: -0.27
RVIS percentile EVS: 34.82

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.117

Gene Damage Prediction

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