No paralogue variants have been mapped to residue 3711 for ANK2.
| ANK2 | --------------VPKTEGDSSATALFPQ>T<HKEQVQQDFSGKMQDLPEESSLEYQQE--- | 3738 |
| ANK1 | DTVDSDATNGLIDLLEQEEGQRSEEKL-PG>S<---KRQDDATGAGQDSENEVSLVSGHQRGQ | 1680 |
| ANK3 | --------------VDGWQNETSSGNLESC>A<QARRVTGGLLDRLDDSPDQCRDSI-TS--- | 4239 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.T3711N | c.11132C>A | Conflict | rs121912705 | SIFT: tolerated Polyphen: possibly damaging | |
| 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 | |||
| Other Cardiac Phenotype | Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. Genet Test Mol Biomarkers. 2013 17(7):553-61. doi: 10.1089/gtmb.2012.0118. 23631430 | ||||
| p.T3711P | c.11131A>C | Putative Benign | rs372212045 | SIFT: tolerated Polyphen: benign | |
| p.T3711A | c.11131A>G | Putative Benign | SIFT: Polyphen: | ||