No paralogue variants have been mapped to residue 2666 for ANK2.
ANK2 | ELAQLKKGADSGLLPEPVIRVQPPSPLPSS>M<D-SNSSPEEVQFQPVVSKQYTFKMNE--DT | 2693 |
ANK1 | ------------------------------>-<------------------------------ | |
ANK3 | ----LQDEHDKYQLAEPVIRVQPPSPVPPG>A<DVSDSSDDESIYQPVPVKKYTFKLKEVDDE | 3342 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.M2666I | c.7998G>A | Putative Benign | rs148904454 | 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 |