MYH1

myosin heavy chain 1, the group of Myosin heavy chains, class II

Basic information

Region (hg38): 17:10492307-10518542

Links

ENSG00000109061 ∙ NCBI:4619 ∙ OMIM:160730 ∙ HGNC:7567 ∙ Uniprot:P12882 ∙ 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 MYH1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MYH1 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			2	2	1	5
missense			114	2		116
nonsense						0
start loss						0
frameshift				1		1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding						0
Total	0	0	116	5	1

Variants in MYH1

This is a list of pathogenic ClinVar variants found in the MYH1 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-10492430-T-C		not specified	Uncertain significance (Dec 20, 2023)
17-10492499-G-A		not specified	Uncertain significance (May 11, 2022)
17-10492505-C-T		not specified	Uncertain significance (Apr 20, 2024)
17-10492511-C-G		not specified	Uncertain significance (Nov 21, 2022)
17-10492523-G-T		not specified	Uncertain significance (Nov 17, 2022)
17-10492534-C-T		not specified	Uncertain significance (Nov 14, 2023)
17-10492559-A-T		not specified	Uncertain significance (May 29, 2024)
17-10494370-C-T		not specified	Uncertain significance (Apr 20, 2024)
17-10494426-A-C		not specified	Uncertain significance (Jul 15, 2021)
17-10494437-G-A		not specified	Uncertain significance (Dec 11, 2023)
17-10494438-G-A			Likely benign (Jan 01, 2023)
17-10494448-G-C		not specified	Uncertain significance (Jan 07, 2022)
17-10494606-C-T		not specified	Uncertain significance (Apr 26, 2024)
17-10494607-G-A		not specified	Uncertain significance (Aug 20, 2023)
17-10494998-C-T		not specified	Uncertain significance (May 09, 2024)
17-10494999-G-A		not specified	Uncertain significance (Mar 01, 2023)
17-10495023-G-T		not specified	Uncertain significance (Nov 03, 2022)
17-10495043-C-T		not specified	Uncertain significance (Mar 16, 2022)
17-10495065-C-T		not specified	Uncertain significance (Jun 29, 2023)
17-10495220-T-C		not specified	Uncertain significance (May 01, 2024)
17-10495226-T-C		not specified	Uncertain significance (Jul 29, 2022)
17-10495253-A-G		not specified	Uncertain significance (Dec 11, 2023)
17-10495259-C-T		not specified	Uncertain significance (Dec 02, 2021)
17-10495302-T-C		not specified	Uncertain significance (Feb 13, 2024)
17-10495304-A-G		not specified	Uncertain significance (Nov 09, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MYH1	protein_coding	protein_coding	ENST00000226207	38	26237

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.36e-56	1.94e-7	123638	15	2095	125748	0.00843

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0357	1027	1.03e+3	0.997	0.0000576	12939
Missense in Polyphen		376	391.65	0.96003		5226
Synonymous	-1.73	424	381	1.11	0.0000208	3497
Loss of Function	0.850	91	100	0.908	0.00000528	1234

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0367	0.0363
Ashkenazi Jewish	0.00992	0.00997
East Asian	0.0143	0.0141
Finnish	0.00836	0.00835
European (Non-Finnish)	0.00383	0.00382
Middle Eastern	0.0143	0.0141
South Asian	0.00517	0.00511
Other	0.00703	0.00686

dbNSFP

Source: dbNSFP

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

Recessive Scores

• pRec: 0.306

Intolerance Scores

• loftool: 0.126
• rvis_EVS: -1.08
• rvis_percentile_EVS: 7.25

Haploinsufficiency Scores

• pHI: 0.691
• hipred: Y
• hipred_score: 0.635
• ghis: 0.491

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.765

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Myh1
• Phenotype: skeleton phenotype; renal/urinary system phenotype; immune system 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); hearing/vestibular/ear phenotype; hematopoietic system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); homeostasis/metabolism phenotype; muscle phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); growth/size/body region phenotype

Gene ontology

• Biological process: muscle contraction
• Cellular component: muscle myosin complex;intercalated disc;A band;myosin filament;cytoplasmic ribonucleoprotein granule
• Molecular function: motor activity;protein binding;calmodulin binding;ATP binding;actin filament binding