MYO1H

myosin IH, the group of Myosin heavy chains, class I

Basic information

Region (hg38): 12:109347900-109455523

Links

ENSG00000174527 ∙ NCBI:283446 ∙ OMIM:614636 ∙ HGNC:13879 ∙ Uniprot:Q8N1T3 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• congenital central hypoventilation syndrome (Supportive), mode of inheritance: AD
• central hypoventilation syndrome, congenital, 2, and autonomic dysfunction (Limited), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction	AR	Neurologic	The condition has been described as involving a lack of ventilatory response to high carbon dioxide levels, and interventions for respiratory support, including tracheostomy, have been reported as necessary	Neurologic	28779001

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MYO1H gene.

• not_specified (163 variants)
• not_provided (13 variants)
• Central_hypoventilation_syndrome,_congenital,_2,_and_autonomic_dysfunction (10 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MYO1H gene is commonly pathogenic or not. These statistics are base on transcript: NM_001101421.4. 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				2	1	3
missense			158	8	3	169
nonsense			1			1
start loss						0
frameshift	1		1	1		3
splice donor/acceptor (+/-2bp)		1	2			3
Total	1	1	162	11	4

Highest pathogenic variant AF is 0.000022314427

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MYO1H	protein_coding	protein_coding	ENST00000310903	31	107621

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.06e-25	0.129	124366	0	290	124656	0.00116

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.652	520	564	0.923	0.0000326	6674
Missense in Polyphen		196	223.42	0.87726		2610
Synonymous	0.719	202	215	0.938	0.0000130	1884
Loss of Function	1.80	47	62.3	0.754	0.00000324	762

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00176	0.00173
Ashkenazi Jewish	0.00193	0.00189
East Asian	0.00179	0.00178
Finnish	0.000512	0.000511
European (Non-Finnish)	0.000980	0.000965
Middle Eastern	0.00179	0.00178
South Asian	0.00248	0.00229
Other	0.00184	0.00182

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails are presumed to bind to membranous compartments, which would be moved relative to actin filaments (By similarity). {ECO:0000250}.

Intolerance Scores

• loftool: 0.368
• rvis_EVS: -0.55
• rvis_percentile_EVS: 20

Haploinsufficiency Scores

• pHI: 0.182
• hipred: N
• hipred_score: 0.229
• ghis: 0.404

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.166

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Myo1h
• Phenotype: growth/size/body region phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); 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)

Gene ontology

• Cellular component: myosin complex
• Molecular function: motor activity;actin binding;ATP binding