No paralogue variants have been mapped to residue 2340 for ANK2.
ANK2 | ACDEGQRTFGSSAHKT-----QTDSEVQES>T<ATSDETKALPLPEASVKTD----------- | 2359 |
ANK1 | ------------------------------>-<------------------------------ | |
ANK3 | SVDQKNEFMSVTERERKLLTNGSLSEIKEM>T<VKSPSKKVLYR-EYVVKEGDHPGGLLDQPS | 2949 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T2340A | c.7018A>G | Benign | rs184514058 | 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 |