MYH15

myosin heavy chain 15, the group of Myosin heavy chains, class II

Basic information

Region (hg38): 3:108380368-108529322

Links

ENSG00000144821 ∙ NCBI:22989 ∙ OMIM:609929 ∙ HGNC:31073 ∙ Uniprot:Q9Y2K3 ∙ 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 MYH15 gene.

• not_specified (270 variants)
• not_provided (36 variants)
• Diffuse_cerebral_and_cerebellar_atrophy_-_intractable_seizures_-_progressive_microcephaly_syndrome (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MYH15 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000014981.3. 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				8	7	15
missense			246	23	5	274
nonsense			1	1		2
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)					1	1
Total	0	0	247	32	13

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MYH15	protein_coding	protein_coding	ENST00000273353	42	148954

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.55e-59	1.79e-7	125220	0	119	125339	0.000475

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0988	998	989	1.01	0.0000505	12904
Missense in Polyphen		290	291.19	0.9959		4407
Synonymous	1.31	330	362	0.912	0.0000181	3496
Loss of Function	1.00	96	107	0.896	0.00000545	1331

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000805	0.000803
Ashkenazi Jewish	0.00	0.00
East Asian	0.00163	0.00158
Finnish	0.0000469	0.0000462
European (Non-Finnish)	0.000404	0.000396
Middle Eastern	0.00163	0.00158
South Asian	0.000528	0.000523
Other	0.000674	0.000656

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Muscle contraction. {ECO:0000250}.
• Pathway: Tight junction - Homo sapiens (human) (Consensus)

Recessive Scores

• pRec: 0.0911

Intolerance Scores

• loftool: 0.196
• rvis_EVS: 0.46
• rvis_percentile_EVS: 78.6

Haploinsufficiency Scores

• pHI: 0.110
• hipred: N
• hipred_score: 0.470
• ghis: 0.458

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.109

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Myh15

Gene ontology

• Biological process: extraocular skeletal muscle development
• Cellular component: myofibril;myosin filament
• Molecular function: motor activity;calmodulin binding;ATP binding;actin filament binding