No paralogue variants have been mapped to residue 2163 for ANK2.
ANK2 | DYMKDEFLPA---------------LSLQS>G<ALDGSSESLKNEGVAGSPCGSLMEGTPQIS | 2193 |
ANK1 | ------------------------------>-<------------------------------ | |
ANK3 | KDEHFDKVTVLHYSGNVSSPKHAMWMRFTE>D<RLDRGREKLIYEDRVDRTVKEAEEKLTEVS | 2592 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G2163S | c.6487G>A | Putative Benign | SIFT: Polyphen: | ||
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 |