No paralogue variants have been mapped to residue 3743 for ANK2.
ANK2 | VQQDFSGKMQDLPEESSLEYQQE---YFVT>T<PGTETSETQKAM---------------IVP | 3758 |
ANK1 | RQDDATGAGQDSENEVSLVSGHQRGQARIT>H<SPTVSQVTERSQDRLQDWDADGSIVSYLQD | 1715 |
ANK3 | VTGGLLDRLDDSPDQCRDSI-TS---YLKG>E<AGKFEANGSHTE---------------ITP | 4259 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T3743A | c.11227A>G | 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 |