No paralogue variants have been mapped to residue 1791 for ANK2.
ANK2 | KEDVPKKTTHRPHPAASPSLKSERHAPGSP>S<PKTERHSTLSS------------------- | 1802 |
ANK1 | ------------------------------>-<------------------------------ | |
ANK3 | FEDAKKDGEERQKRVLKPAIALQEHKLKMP>P<ASMRTSTSEKELCKMADSFFGTDTILESPD | 2113 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S1791P | c.5371T>C | Putative Benign | rs199473344 | SIFT: tolerated Polyphen: possibly damaging | |
Reports | Putative Benign | Targeted mutational analysis of ankyrin-B in 541 consecutive, unrelated patients referred for long QT syndrome genetic testing and 200 healthy subjects. Heart Rhythm. 2005 2(11):1218-23. 16253912 |