MYH10

myosin heavy chain 10, the group of Myosin heavy chains, class II

Basic information

Region (hg38): 17:8474206-8631376

Links

ENSG00000133026 ∙ NCBI:4628 ∙ OMIM:160776 ∙ HGNC:7568 ∙ Uniprot:P35580 ∙ 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 MYH10 gene.

• not provided (61 variants)
• Inborn genetic diseases (45 variants)
• MYH10-related condition (5 variants)
• 6 conditions (1 variants)
• not specified (1 variants)
• Global developmental delay (1 variants)
• 7 conditions (1 variants)
• Neurodevelopmental abnormality (1 variants)
• Obesity;Macrocephaly;Upslanted palpebral fissure;Macrotia;Global developmental delay (1 variants)
• Autism spectrum disorder (1 variants)
• See cases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MYH10 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	7	10
missense	1	1	81	1		84
nonsense	1		3			4
start loss						0
frameshift			2			2
inframe indel			2			2
splice donor/acceptor (+/-2bp)			4			4
splice region				2	2	4
non coding				1	3	4
Total	2	1	92	5	10

Variants in MYH10

This is a list of pathogenic ClinVar variants found in the MYH10 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-8475843-G-A		MYH10-related disorder	Benign/Likely benign (Feb 18, 2019)
17-8475850-C-G		Inborn genetic diseases	Uncertain significance (May 06, 2022)
17-8475898-A-G		Inborn genetic diseases	Uncertain significance (Dec 01, 2022)
17-8475904-C-T		Jaw-winking syndrome	Uncertain significance (Feb 26, 2024)
17-8475908-G-A		Inborn genetic diseases	Uncertain significance (Oct 03, 2023)
17-8475916-C-G		Inborn genetic diseases	Uncertain significance (Mar 31, 2023)
17-8475920-TG-T			Uncertain significance (Apr 29, 2022)
17-8475947-G-A		Inborn genetic diseases	Uncertain significance (Oct 27, 2023)
17-8476883-G-A			Uncertain significance (Nov 09, 2017)
17-8476897-C-G			Uncertain significance (Feb 16, 2023)
17-8476906-C-T		Inborn genetic diseases	Uncertain significance (May 02, 2023)
17-8476919-C-G		Inborn genetic diseases	Uncertain significance (May 24, 2023)
17-8476920-G-A		MYH10-related disorder	Likely benign (May 08, 2019)
17-8476949-G-A		Inborn genetic diseases	Uncertain significance (Dec 06, 2022)
17-8476978-C-T			Uncertain significance (Mar 01, 2023)
17-8477045-C-G		MYH10-related disorder	Uncertain significance (Aug 29, 2023)
17-8478333-C-A			Benign (Sep 01, 2023)
17-8478333-C-T			Likely benign (May 21, 2018)
17-8478334-G-A			Benign (Jul 16, 2018)
17-8478347-A-AT			Uncertain significance (Apr 06, 2023)
17-8478358-C-T		Inborn genetic diseases	Uncertain significance (Dec 01, 2022)
17-8478363-C-T		Global developmental delay • Neurodevelopmental abnormality	Uncertain significance (Mar 17, 2020)
17-8478414-C-T		Inborn genetic diseases	Uncertain significance (Jan 23, 2023)
17-8478436-C-T		Inborn genetic diseases	Uncertain significance (Oct 29, 2021)
17-8480124-AAGCTGCTCCTCC-A		MYH10-related disorder	Uncertain significance (Dec 07, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MYH10	protein_coding	protein_coding	ENST00000360416	42	156557

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	9.44e-11	125726	0	22	125748	0.0000875

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	5.01	671	1.15e+3	0.584	0.0000717	13235
Missense in Polyphen		256	531.13	0.48199		6267
Synonymous	1.19	408	440	0.928	0.0000272	3701
Loss of Function	8.96	12	116	0.103	0.00000629	1366

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000344	0.0000344
Ashkenazi Jewish	0.000398	0.000397
East Asian	0.000109	0.000109
Finnish	0.0000463	0.0000462
European (Non-Finnish)	0.000115	0.000114
Middle Eastern	0.000109	0.000109
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Cellular myosin that appears to play a role in cytokinesis, cell shape, and specialized functions such as secretion and capping. Involved with LARP6 in the stabilization of type I collagen mRNAs for CO1A1 and CO1A2. During cell spreading, plays an important role in cytoskeleton reorganization, focal contacts formation (in the central part but not the margins of spreading cells), and lamellipodial extension; this function is mechanically antagonized by MYH9. {ECO:0000269|PubMed:20052411, ECO:0000269|PubMed:20603131}.
• Disease: DISEASE: Note=Associated with severe intellectual disability, microcephaly, and feeding difficulties as well as cerebral atrophy. {ECO:0000269|PubMed:25003005, ECO:0000269|PubMed:25356899}.
• Pathway: Salmonella infection - Homo sapiens (human);Tight junction - Homo sapiens (human);Regulation of actin cytoskeleton - Homo sapiens (human);Regulation of Actin Cytoskeleton;Developmental Biology;Signal Transduction;EPH-Ephrin signaling;EPHA-mediated growth cone collapse;RHO GTPases Activate ROCKs;RHO GTPases activate PAKs;RHO GTPases activate PKNs;RHO GTPases activate CIT;RHO GTPase Effectors;Signaling by Rho GTPases;Sema4D induced cell migration and growth-cone collapse;Sema4D in semaphorin signaling;Semaphorin interactions;Axon guidance (Consensus)

Intolerance Scores

• rvis_EVS: -2.08
• rvis_percentile_EVS: 1.6

Haploinsufficiency Scores

• pHI: 0.847
• hipred: Y
• hipred_score: 0.782
• ghis: 0.580

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.946

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Myh10
• Phenotype: liver/biliary system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); embryo phenotype; normal phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); vision/eye phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); skeleton phenotype; cellular phenotype; immune system phenotype; homeostasis/metabolism phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); growth/size/body region phenotype; craniofacial phenotype; muscle phenotype

Zebrafish Information Network

• Gene name: myh10
• Affected structure: post-vent region
• Phenotype tag: abnormal
• Phenotype quality: curved

Gene ontology

• Biological process: mitotic cytokinesis;in utero embryonic development;neuron migration;plasma membrane repair;cardiac septum development;exocytosis;substrate-dependent cell migration, cell extension;nuclear migration;cell adhesion;axon guidance;adult heart development;cell population proliferation;regulation of cell shape;fourth ventricle development;lateral ventricle development;third ventricle development;cerebellar Purkinje cell layer development;actin filament-based movement;actomyosin structure organization;aorta development;positive regulation of protein secretion;neuromuscular process controlling balance;cardiac myofibril assembly;ventricular cardiac muscle cell development;retina development in camera-type eye;coronary vasculature development;modification of postsynaptic actin cytoskeleton;postsynaptic actin cytoskeleton organization
• Cellular component: stress fiber;nucleus;cytoplasm;spindle;cytosol;polysome;brush border;cell cortex;myosin complex;myosin II complex;lamellipodium;growth cone;midbody;neuromuscular junction;cleavage furrow;actomyosin;neuronal cell body;dendritic spine;extracellular exosome;myosin II filament;glutamatergic synapse
• Molecular function: microfilament motor activity;actin binding;protein binding;calmodulin binding;ATP binding;ATPase activity;actin-dependent ATPase activity;RNA stem-loop binding;ADP binding;mRNA 5'-UTR binding;actin filament binding