MYBPH

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

Basic information

Region (hg38): 1:203167811-203175826

Links

ENSG00000133055 ∙ NCBI:4608 ∙ OMIM:160795 ∙ HGNC:7552 ∙ Uniprot:Q13203 ∙ 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 MYBPH gene.

• not_specified (66 variants)
• not_provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MYBPH gene is commonly pathogenic or not. These statistics are base on transcript: NM_000004997.3. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					2	2
missense			61	5		66
nonsense						0
start loss						0
frameshift			1			1
splice donor/acceptor (+/-2bp)						0
Total	0	0	62	5	2

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MYBPH	protein_coding	protein_coding	ENST00000255416	10	8003

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.25e-13	0.0647	125559	2	187	125748	0.000752

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.329	262	277	0.944	0.0000164	3032
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00199	0.00195
Ashkenazi Jewish	0.00	0.00
East Asian	0.000711	0.000707
Finnish	0.000285	0.000277
European (Non-Finnish)	0.000669	0.000659
Middle Eastern	0.000711	0.000707
South Asian	0.00186	0.00180
Other	0.000328	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Binds to myosin; probably involved in interaction with thick myofilaments in the A-band.
• Pathway: G13 Signaling Pathway (Consensus)

Recessive Scores

• pRec: 0.118

Intolerance Scores

• loftool: 0.826
• rvis_EVS: -0.27
• rvis_percentile_EVS: 34.82

Haploinsufficiency Scores

• pHI: 0.0861
• hipred: N
• hipred_score: 0.170
• ghis: 0.431

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.117

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mybph

Gene ontology

• Biological process: regulation of striated muscle contraction;cell adhesion
• Cellular component: myosin filament
• Molecular function: protein binding;structural constituent of muscle