No paralogue variants have been mapped to residue 498 for ANK2.
ANK2 | LHMAARAGQVEVVRCLLRNGALVDARAREE>Q<TPLHIASRLGKTEIVQLLLQHMAHPDAATT | 528 |
ANK1 | LHMAARAGHTEVAKYLLQNKAKVNAKAKDD>Q<TPLHCAARIGHTNMVKLLLENNANPNLATT | 501 |
ANK3 | LHMAARSGQAEVVRYLVQDGAQVEAKAKDD>Q<TPLHISARLGKADIVQQLLQQGASPNAATT | 530 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Q498E | c.1492C>G | 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 |