No paralogue variants have been mapped to residue 2026 for ANK2.
ANK2 | ----------------------KRGQRLPV>T<GTAESKR-----GVRVSSIGVKKEDAAGGK | 2051 |
ANK1 | ------------------------------>-<------------------------------ | |
ANK3 | SRGDINLKDFLPEKHDAFPCSEEQGQQEEE>E<LTAEESLPSYLESSRVNTPVSQEEDSRPSS | 2426 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T2026M | c.6077C>T | Putative Benign | rs200765866 | SIFT: deleterious Polyphen: possibly damaging | |
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 |