No paralogue variants have been mapped to residue 2890 for ANK2.
ANK2 | TQTDRFSMDVPVSDL------AENDEIYDP>Q<ITSPYENVPSQSFFSSEESKTQTDANHTTS | 2920 |
ANK1 | ------------------------------>-<------------------------------ | |
ANK3 | IKKDIWNTEGILKPADRSFSQSKLEVIEEE>G<KVGPDEDKPPSKSSSSEKTPDKTDQKSGAQ | 3501 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Q2890R | c.8669A>G | 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 |