No paralogue variants have been mapped to residue 3248 for ANK2.
ANK2 | AVQVQLDFSTLTRSVYSDRGDDSPDSSPEE>Q<KSVIEIPTAPMENVPFTESKSKIPVRTMPT | 3278 |
ANK1 | ------------------------------>-<------------------------------ | |
ANK3 | GVRPHEK-HDFQKDNFNNN--NNLDSSTIQ>T<DNI-------MSNIVLTEH--SAPTCTTEK | 3820 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Q3248E | c.9742C>G | Putative Benign | rs372534074 | 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 |