No paralogue variants have been mapped to residue 573 for ANK2.
ANK2 | VDVASVLLEAGAAHSLATKKGFTPLHVAAK>Y<GSLDVAKLLLQRRAAADSAGKNGLTPLHVA | 603 |
ANK1 | VETVLALLEKEASQACMTKKGFTPLHVAAK>Y<GKVRVAELLLERDAHPNAAGKNGLTPLHVA | 576 |
ANK3 | EDVAAFLLDHGASLSITTKKGFTPLHVAAK>Y<GKLEVANLLLQKSASPDAAGKSGLTPLHVA | 605 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Y573H | c.1717T>C | Putative Benign | 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 |