MYH4

myosin heavy chain 4, the group of Myosin heavy chains, class II

Basic information

Region (hg38): 17:10443289-10469559

Links

ENSG00000264424 ∙ NCBI:4622 ∙ OMIM:160742 ∙ HGNC:7574 ∙ Uniprot:Q9Y623 ∙ 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 MYH4 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MYH4 gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					3	3
missense			117	3	5	125
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding						0
Total	0	0	117	3	8

Variants in MYH4

This is a list of pathogenic ClinVar variants found in the MYH4 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
17-10443385-C-T		not specified	Uncertain significance (Apr 05, 2023)
17-10443388-A-C		not specified	Uncertain significance (Nov 06, 2023)
17-10443391-A-G		not specified	Uncertain significance (Jun 24, 2022)
17-10443422-T-C		not specified	Uncertain significance (Jan 04, 2022)
17-10443457-C-T		not specified	Uncertain significance (May 27, 2022)
17-10443494-G-A		not specified	Uncertain significance (Nov 07, 2022)
17-10443514-T-A		not specified	Uncertain significance (Jan 27, 2022)
17-10444626-T-G		not specified	Uncertain significance (Aug 12, 2022)
17-10444671-C-T		not specified	Uncertain significance (Sep 27, 2021)
17-10444832-C-T		not specified	Uncertain significance (Apr 23, 2024)
17-10445019-G-A		not specified	Uncertain significance (Sep 06, 2022)
17-10445037-T-C			Benign (Mar 09, 2020)
17-10445043-C-T		not specified	Uncertain significance (Jul 14, 2022)
17-10445058-T-G			Benign (Apr 20, 2018)
17-10445085-A-G		not specified	Uncertain significance (Feb 28, 2024)
17-10445274-C-A		not specified	Uncertain significance (Jan 23, 2024)
17-10445275-G-A		not specified	Uncertain significance (Apr 13, 2022)
17-10445275-G-T		not specified	Uncertain significance (Nov 18, 2023)
17-10445287-C-A		not specified	Uncertain significance (Jan 26, 2022)
17-10447023-A-G		not specified	Uncertain significance (Dec 22, 2023)
17-10447036-G-A		not specified	Uncertain significance (Sep 26, 2022)
17-10447080-C-T		not specified	Uncertain significance (Aug 04, 2023)
17-10447090-G-A		not specified	Uncertain significance (Apr 09, 2024)
17-10447129-T-G		not specified	Uncertain significance (Nov 09, 2023)
17-10447191-G-A		not specified	Uncertain significance (May 03, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MYH4	protein_coding	protein_coding	ENST00000255381	38	26270

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.04e-55	0.00000124	125039	0	709	125748	0.00282

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.111	1020	1.03e+3	0.990	0.0000571	12912
Missense in Polyphen		418	419.9	0.99548		5425
Synonymous	0.0244	382	383	0.998	0.0000213	3514
Loss of Function	1.18	92	105	0.876	0.00000584	1242

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00650	0.00650
Ashkenazi Jewish	0.00606	0.00607
East Asian	0.00239	0.00239
Finnish	0.000649	0.000647
European (Non-Finnish)	0.00331	0.00326
Middle Eastern	0.00239	0.00239
South Asian	0.00229	0.00213
Other	0.00163	0.00147

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Muscle contraction.
• Pathway: Tight junction - Homo sapiens (human) (Consensus)

Recessive Scores

• pRec: 0.188

Intolerance Scores

• loftool: 0.123
• rvis_EVS: 0.14
• rvis_percentile_EVS: 63.62

Haploinsufficiency Scores

• pHI: 0.564
• hipred: Y
• hipred_score: 0.660

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.653

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Myh4
• Phenotype: behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); immune system phenotype; growth/size/body region phenotype; muscle phenotype

Zebrafish Information Network

• Gene name: myhz2
• Affected structure: muscle cell
• Phenotype tag: abnormal
• Phenotype quality: deformed

Gene ontology

• Biological process: muscle contraction;actin filament-based movement;muscle filament sliding;ATP metabolic process
• Cellular component: muscle myosin complex;myofibril;sarcomere;myosin filament
• Molecular function: microfilament motor activity;double-stranded RNA binding;calmodulin binding;ATP binding;ATPase activity;actin filament binding