No paralogue variants have been mapped to residue 3601 for ANK2.
ANK2 | ENPNSLQDQSHALLKYWLERDGKHATDTNL>V<ECLTKINRMDIVHLMETNT-EPLQERISHS | 3630 |
ANK1 | ENPNSLLEQSVALLNLWVIREGQNANMENL>Y<TALQSIDRGEIVNMLEGSGRQSRNLKPDRR | 1498 |
ANK3 | ENPNSLISQSFMLLKKWVTRDGKNATTDAL>T<SVLTKINRIDIVTLLEGP------------ | 4173 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V3601D | c.10802T>A | Conflict | rs66785829 | SIFT: tolerated Polyphen: possibly damaging | |
Reports | Other Cardiac Phenotype | Defining the cellular phenotype of "ankyrin-B syndrome" variants: human ANK2 variants associated with clinical phenotypes display a spectrum of activities in cardiomyocytes. Circulation. 2007 115(4):432-41. 17242276 | |||
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 | ||||
p.V3601I | c.10801G>A | Inherited Arrhythmia | LQTS | rs143228029 | SIFT: tolerated Polyphen: benign |
Reports | Inherited Arrhythmia | LQTS | Targeted mutational analysis of ankyrin-B in 541 consecutive, unrelated patients referred for long QT syndrome genetic testing and 200 healthy subjects. Heart Rhythm. 2005 2(11):1218-23. 16253912 |