No paralogue variants have been mapped to residue 1645 for ANK2.
ANK2 | --LPKEQLQTVQDKAGKKCEALAVGRSSEK>E<GKDIPPDETQSTQKQHKPSLGIKKPVRRKL | 1675 |
ANK1 | ------------------------------>-<------------------------------ | |
ANK3 | NVLPEPALKKLPDSNSFTKSAAALLSPIKT>L<TTETHPQPHFSRTSSPVKSSLFLAPSALKL | 1889 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E1645K | c.4933G>A | Putative Benign | SIFT: tolerated 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 |