No paralogue variants have been mapped to residue 178 for ANK2.
ANK2 | YLLENGANQSTATEDGFTPLAVALQQGHNQ>A<VAILLENDTKGKVRLPALHIAARKDDTKSA | 208 |
ANK1 | FLLENGANQNVATEDGFTPLAVALQQGHEN>V<VAHLINYGTKGKVRLPALHIAARNDDTRTA | 189 |
ANK3 | FLLDNGASQSLATEDGFTPLAVALQQGHDQ>V<VSLLLENDTKGKVRLPALHIAARKDDTKAA | 218 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A178V | c.533C>T | Unknown | SIFT: Polyphen: | ||
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 |