No paralogue variants have been mapped to residue 3862 for ANK2.
| ANK2 | DAAFEKGDDMPEIPPETVTEEEYIDEHGHT>V<VKKVTRKIIRRYVSSE---GTEKEEIMVQG | 3889 |
| ANK1 | FTQVVQGNEFQNIPGEQVTEEQFTDEQGNI>V<TKKIIRKVVRQIDLSSADAAQEHEEVELRG | 1853 |
| ANK3 | TSPADGKPRLSLHEEEGSS----------->-<-------------------GSEQ------- | 4354 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.V3862M | c.11584G>A | Other Cardiac Phenotype | rs72556370 | SIFT: deleterious Polyphen: probably 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 | |||
| p.V3862L | c.11584G>C | Putative Benign | rs72556370 | SIFT: deleterious Polyphen: probably damaging | |