No paralogue variants have been mapped to residue 475 for ANK2.
ANK2 | NIVLLLLQNGASPDVTNIRGETALHMAARA>G<QVEVVRCLLRNGALVDARAREEQTPLHIAS | 505 |
ANK1 | PIVKNLLQRGASPNVSNVKVETPLHMAARA>G<HTEVAKYLLQNKAKVNAKAKDDQTPLHCAA | 478 |
ANK3 | NIVSQLMHHGASPNTTNVRGETALHMAARS>G<QAEVVRYLVQDGAQVEAKAKDDQTPLHISA | 507 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G475R | c.1423G>A | Other Cardiac Phenotype | rs36210415 | SIFT: deleterious Polyphen: probably damaging | |
Reports | Other Cardiac Phenotype | Association of torsades de pointes with novel and known single nucleotide polymorphisms in long QT syndrome genes. Am Heart J. 2006 152(6):1116-22. 17161064 |