No paralogue variants have been mapped to residue 1549 for ANK2.
| ANK2 | ---VKEDLEKVNEILRSGTCTRDESSVQSS>R<SE---------------------------R | 1552 |
| ANK1 | ------------------------------>-<------------------------------ | |
| ANK3 | FSSRTSPVTTAGSLLERSSITMTPPASPKS>N<INMYSSSLPFKSIITSAAPLISSPLKSVVS | 1680 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R1549W | c.4645C>T | Benign | rs35249198 | SIFT: deleterious Polyphen: possibly damaging | |
| p.R1549Q | c.4646G>A | Benign | rs138842207 | SIFT: Polyphen: benign | |
| Reports | 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 | |||