No paralogue variants have been mapped to residue 3881 for ANK2.
ANK2 | YIDEHGHTVVKKVTRKIIRRYVSSE---GT>E<KEEIMVQGMPQEPVNIEEGDGYSKVIK-RV | 3910 |
ANK1 | FTDEQGNIVTKKIIRKVVRQIDLSSADAAQ>E<HEEVELRGSGLQPDLI-EGRKGAQIVKRAS | 1874 |
ANK3 | ----------------------------GS>E<Q--------------K-QGEGFKVKTK-KE | 4367 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E3881D | c.11643G>C | Unknown | 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 |