| Variant ID | 6054 |
|---|---|
| Entrez Gene ID | 287 |
| Gene | ANK2 (GeneCards) |
| Location | hg19 4:114131032-114131032
hg38 4:113209876-113209876 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000004.11:g.114131032 G>A (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 | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2609 |
| CADD Raw score (version 1.3) | -0.026536 (Deleterious) |
| FATHMM raw prediction score | 0.19147 (Tolerated) |
| Deleterious probability by DeFine | 0.1094 (Neutral) |
| Entrez Gene ID | 287 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ANK2 (GeneCards) |
| Number of variants in ANK2 in this database | 12 (view all the variants) |
| Full name | ankyrin 2 |
| Band | 4q25-q26 |
| Other IDs | Vega: OTTHUMG00000132912 OMIM: 106410 HGNC: HGNC:493 Ensembl: ENSG00000145362 |
| Other names | LQT4, ANK-2, brank-2 |
| Summary | This gene encodes a member of the ankyrin family of proteins that link the integral membrane proteins to the underlying spectrin-actin cytoskeleton. Ankyrins play key roles in activities such as cell motility, activation, proliferation, contact and the maintenance of specialized membrane domains. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. The protein encoded by this gene is required for targeting and stability of Na/Ca exchanger 1 in cardiomyocytes. Mutations in this gene cause long QT syndrome 4 and cardiac arrhythmia syndrome. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Dec 2011] |
| 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; |