No paralogue variants have been mapped to residue 3898 for ANK2.
ANK2 | IRRYVSSE---GTEKEEIMVQGMPQEPVNI>E<EGDGYSKVIK-RVVLKSDTEQSEDNNE | 3924 |
ANK1 | VRQIDLSSADAAQEHEEVELRGSGLQPDLI>-<EGRKGAQIVKRASLKRGK--------Q | 1880 |
ANK3 | -----------GSEQ--------------K>-<QGEGFKVKTK-KEIRHVEKKSH----S | 4377 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E3898K | c.11692G>A | Conflict | rs45454496 | SIFT: tolerated Polyphen: benign | |
Reports | Other Cardiac Phenotype | A cardiac arrhythmia syndrome caused by loss of ankyrin-B function. Proc Natl Acad Sci U S A. 2004 101(24):9137-42. 15178757 |