MYH13

myosin heavy chain 13, the group of Myosin heavy chains, class II

Basic information

Region (hg38): 17:10300864-10373130

Links

ENSG00000006788 ∙ NCBI:8735 ∙ OMIM:603487 ∙ HGNC:7571 ∙ Uniprot:Q9UKX3 ∙ 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 MYH13 gene.

• Inborn genetic diseases (99 variants)
• not provided (5 variants)
• not specified (2 variants)
• See cases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MYH13 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
missense			98	3	2	103
nonsense						0
start loss						0
frameshift						0
inframe indel				1		1
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding						0
Total	0	0	98	6	2

Variants in MYH13

This is a list of pathogenic ClinVar variants found in the MYH13 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-10301618-T-A		not specified	Uncertain significance (Sep 09, 2021)
17-10301640-C-T		not specified	Uncertain significance (Feb 15, 2023)
17-10303257-T-A		not specified	Uncertain significance (Jan 30, 2024)
17-10303277-G-T		not specified	Uncertain significance (Oct 26, 2022)
17-10303286-C-G		not specified	Uncertain significance (Dec 03, 2021)
17-10303405-T-C		not specified	Uncertain significance (May 08, 2023)
17-10303408-C-G		not specified	Uncertain significance (Jan 03, 2024)
17-10303494-C-T		not specified	Uncertain significance (Feb 03, 2022)
17-10306491-C-T		not specified	Uncertain significance (Sep 12, 2023)
17-10306496-T-C		not specified	Uncertain significance (May 03, 2023)
17-10306502-G-A		not specified	Uncertain significance (Aug 12, 2021)
17-10306541-T-G		not specified	Uncertain significance (Aug 12, 2021)
17-10306547-G-A		not specified	Uncertain significance (Nov 08, 2022)
17-10306571-C-T		not specified	Uncertain significance (Jan 19, 2024)
17-10306572-G-A		not specified	Uncertain significance (Oct 17, 2023)
17-10306599-C-T		MYH13-related disorder	Likely benign (Apr 06, 2022)
17-10306943-G-A		not specified	Uncertain significance (Nov 14, 2023)
17-10307001-C-T		not specified	Uncertain significance (Feb 14, 2023)
17-10309279-C-G		not specified	Uncertain significance (Aug 09, 2021)
17-10309305-C-T		not specified	Uncertain significance (Aug 15, 2023)
17-10309386-C-T		MYH13-related disorder • not specified	Conflicting classifications of pathogenicity (Nov 08, 2022)
17-10309392-G-A		not specified	Uncertain significance (Jan 03, 2022)
17-10309400-T-C		not specified	Benign (Dec 12, 2023)
17-10309527-G-A		MYH13-related disorder • not specified	Conflicting classifications of pathogenicity (Nov 08, 2022)
17-10309541-G-A		not specified	Uncertain significance (Dec 18, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MYH13	protein_coding	protein_coding	ENST00000418404	39	75047

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
8.05e-40	0.0771	125061	1	686	125748	0.00274

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.105	1079	1.09e+3	0.991	0.0000658	12876
Missense in Polyphen		458	459.22	0.99734		5901
Synonymous	0.153	438	442	0.991	0.0000289	3458
Loss of Function	2.45	76	103	0.739	0.00000514	1254

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00517	0.00507
Ashkenazi Jewish	0.000298	0.000298
East Asian	0.00507	0.00501
Finnish	0.00203	0.00203
European (Non-Finnish)	0.00205	0.00203
Middle Eastern	0.00507	0.00501
South Asian	0.00674	0.00672
Other	0.00230	0.00228

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Fast twitching myosin mediating the high-velocity and low-tension contractions of specific striated muscles. {ECO:0000269|PubMed:23908353}.
• Pathway: Tight junction - Homo sapiens (human) (Consensus)

Recessive Scores

• pRec: 0.188

Intolerance Scores

• rvis_EVS: -0.64
• rvis_percentile_EVS: 16.74

Haploinsufficiency Scores

• pHI: 0.486
• hipred: Y
• hipred_score: 0.509
• ghis: 0.560

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.704

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Myh13

Gene ontology

• Biological process: muscle contraction;cellular response to starvation
• Cellular component: muscle myosin complex;myofibril;myosin filament;extracellular exosome
• Molecular function: microfilament motor activity;calmodulin binding;ATP binding;actin filament binding