No paralogue variants have been mapped to residue 1406 for ANK2.
| ANK2 | NRLPLFVKVRDTTQEPCGRLSFMKEPKSTR>G<LVHQAICNLNITLPIYTKESESDQEQE--- | 1433 |
| ANK1 | NRLAMPVKVRDSSREPGGSLSFLRKAMKYE>D<TQ-HILCHLNITMPPCAKGSGAEDRRR--- | 1377 |
| ANK3 | NRLPFSIKIRDTSQEPCGRLSFLKEPKTTK>G<LPQTAVCNLNITLPAHKKETESDQDDEIEK | 1453 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.G1406C | c.4216G>T | Benign | rs34591340 | SIFT: deleterious Polyphen: possibly damaging | |
| Reports | Putative Benign | 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 | |||
| 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 | ||||
| p.G1406D | c.4217G>A | Putative Benign | SIFT: Polyphen: | ||