Overview

Variant ID 34573
Entrez Gene ID 80206
Gene FHOD3 (GeneCards)
Location hg19 18:34130043-34130043
hg38 18:36550080-36550080
Disease Asymptomatic
Method Whole Genome Sequencing Ion Torrent PGM Sequencing
Mutation(HGVS format) NC_000018.9:g.34130043 A>G (Genome Assembly: hg19)

Other information

Exon or Intron intron
Position in protein NA
Amino acid changes in protein NA > NA
Position in cDNA NA
Changes in cDNA NA > NA
mRNA accession NA
mRNA length NA
Reference length 78077248

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score -0.2594
CADD Raw score (version 1.3) 0.244348 (Deleterious)
FATHMM raw prediction score 0.07857 (Tolerated)
Deleterious probability by DeFine 0.0344 (Neutral)
Entrez Gene ID 80206 (NCBI Gene)
Official Gene Symbol FHOD3 (GeneCards)
Number of variants in FHOD3 in this database 5 (view all the variants)
Full name formin homology 2 domain containing 3
Band 18q12.2
Other IDs Vega: OTTHUMG00000182381
OMIM: 609691
HGNC: HGNC:26178
Ensembl: ENSG00000134775
Other names FHOS2, Formactin2
Summary The protein encoded by this gene is a member of the diaphanous-related formins (DRF), and contains multiple domains, including GBD (GTPase-binding domain), DID (diaphanous inhibitory domain), FH1 (formin homology 1), FH2 (formin homology 2), and DAD (diaphanous auto-regulatory domain) domains. This protein is thought to play a role in actin filament polymerization in cardiomyocytes. Mutations in this gene have been associated with dilated cardiomyopathy (DCM), characterized by dilation of the ventricular chamber, leading to impairment of systolic pump function and subsequent heart failure. Increased levels of the protein encoded by this gene have been observed in individuals with hypertrophic cardiomyopathy (HCM). Alternative splicing results in multiple transcript variants encoding different isoforms. A muscle-specific isoform has been shown to possess a casein kinase 2 (CK2) phosphorylation site at the C-terminal end of the FH2 domain. Phosphorylation of this site alters its interaction with sequestosome 1 (SQSTM1), and targets this isoform to myofibrils, while other isoforms form cytoplasmic aggregates. [provided by RefSeq, Aug 2015]

Individual #1

Individual ID 24760347.01 (view all the variants in this individual)
Pubmed ID 24760347
Whose mosaic mutation Normal  
Phenotype 1  
Disease Asymptomatic
OMIM ID

Publication #1: 24760347

Pubmed ID 24760347
Title Somatic mutations found in the healthy blood compartment of a 115-yr-old woman demonstrate oligoclonal hematopoiesis
Journal Genome Research
Publication date 2014.04
Disease Asymptomatic
Number of cases Female cases: 1;