Overview

Variant ID 34344
Entrez Gene ID 287
Gene ANK2 (GeneCards)
Location hg19 4:113841344-113841344
hg38 4:112920188-112920188
Disease Asymptomatic
Method Whole Genome Sequencing Ion Torrent PGM Sequencing
Mutation(HGVS format) NC_000004.11:g.113841344 C>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 191154276

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score -0.3051
CADD Raw score (version 1.3) -0.267827 (Deleterious)
FATHMM raw prediction score 0.09651 (Tolerated)
Deleterious probability by DeFine 0.2481 (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 #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;