No paralogue variants have been mapped to residue 3873 for ANK2.
| ANK2 | EIPPETVTEEEYIDEHGHTVVKKVTRKIIR>R<YVSSE---GTEKEEIMVQGMPQEPVNIEEG | 3900 |
| ANK1 | NIPGEQVTEEQFTDEQGNIVTKKIIRKVVR>Q<IDLSSADAAQEHEEVELRGSGLQPDLI-EG | 1863 |
| ANK3 | LHEEEGSS---------------------->-<--------GSEQ--------------K-QG | 4357 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R3873W | c.11617C>T | Conflict | rs121912706 | SIFT: deleterious Polyphen: probably damaging | |
| Reports | Other Cardiac Phenotype | A cardiac arrhythmia syndrome caused by loss of ankyrin-B function. Proc Natl Acad Sci U S A. 2004 101(24):9137-42. 15178757 | |||
| Other Cardiac Phenotype | Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. Genet Test Mol Biomarkers. 2013 17(7):553-61. doi: 10.1089/gtmb.2012.0118. 23631430 | ||||
| Other Cardiac Phenotype | New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia. Circ Cardiovasc Genet. 2013 6(5):481-9. doi: 10.1161/CIRCGENETICS.113.000118. 24025405 | ||||
| Unknown | Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart. 2015 101(4):294-301. doi: 10.1136/heartjnl-2014-306387. 25351510 | ||||