| Variant ID | 20207 |
|---|---|
| Entrez Gene ID | 80206 |
| Gene | FHOD3 (GeneCards) |
| Location | hg19 18:33993240-33993240
hg38 18:36413277-36413277 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000018.9:g.33993240 C>T (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| 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 |
| MAF in gnomAD genome (version 2.0.1) | 0.0018 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs191987704 |
| EIGEN score | -0.5195 |
| CADD Raw score (version 1.3) | -0.378309 (Deleterious) |
| FATHMM raw prediction score | 0.14617 (Tolerated) |
| Deleterious probability by DeFine | 0.4696 (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 ID | 29217584.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |