MYO1H

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

Basic information

Region (hg38): 12:109347900-109455523

Links

ENSG00000174527NCBI:283446OMIM:614636HGNC:13879Uniprot:Q8N1T3AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

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

ConditionInheritanceIntervention CategoriesIntervention/Rationale Manifestation CategoriesReferences
Central hypoventilation syndrome, congenital, 2, and autonomic dysfunctionARNeurologicThe 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 necessaryNeurologic28779001

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.

EffectPLPVUSLBBSum
synonymous
2
clinvar
1
clinvar
3
missense
158
clinvar
8
clinvar
3
clinvar
169
nonsense
1
clinvar
1
start loss
0
frameshift
1
clinvar
1
clinvar
1
clinvar
3
splice donor/acceptor (+/-2bp)
1
clinvar
2
clinvar
3
Total 1 1 162 11 4

Highest pathogenic variant AF is 0.000022314427

Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
MYO1Hprotein_codingprotein_codingENST00000310903 31107621
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
2.06e-250.12912436602901246560.00116
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.6525205640.9230.00003266674
Missense in Polyphen196223.420.877262610
Synonymous0.7192022150.9380.00001301884
Loss of Function1.804762.30.7540.00000324762

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.001760.00173
Ashkenazi Jewish0.001930.00189
East Asian0.001790.00178
Finnish0.0005120.000511
European (Non-Finnish)0.0009800.000965
Middle Eastern0.001790.00178
South Asian0.002480.00229
Other0.001840.00182

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
essential_gene_gene_trap
gene_indispensability_pred
N
gene_indispensability_score
0.166

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

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

Biological process
Cellular component
myosin complex
Molecular function
motor activity;actin binding;ATP binding