No paralogue variants have been mapped to residue 2943 for ANK2.
ANK2 | TDANHTTSFHSSEVYSVTITSPVEDVVVAS>S<SSGTVLSKESNFEGQDIKMESQQESTLWEM | 2973 |
ANK1 | ------------------------------>-<------------------------------ | |
ANK3 | TDQKSGAQFFTLEGRHPDRS---------->-<--------------------VFPD------ | 3517 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S2943C | c.8828C>G | Putative Benign | rs371343942 | SIFT: deleterious Polyphen: probably 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 |