No paralogue variants have been mapped to residue 2983 for ANK2.
ANK2 | SNFEGQDIKMESQQESTLWEMQSDSVSSSF>E<PTMSATTTVVGEQIS---KVIITKTDVDSD | 3010 |
ANK1 | ------------------------------>-<------------------------------ | |
ANK3 | -----------VFPD--------------->-<--TYFSYK-VDEEFATPFKT-VATKGLDFD | 3543 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E2983K | c.8947G>A | Benign | rs149963885 | 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 |