No paralogue variants have been mapped to residue 3806 for ANK2.
ANK2 | GSPIIQEPEEP-------------SEHREE>S<SPRKTSLVIVESAD--NQPE-TCERLDEDA | 3833 |
ANK1 | GTSTMTEGLEPGGSQEYEKVLVSVSEHTWT>E<QPEAESSQADRDRRQQGQEEQVQEAKNTFT | 1794 |
ANK3 | GSGHVEEPASP-------------LAAYQK>S<LEETSKLIIEETKP--CVPV-SMKKMSRTS | 4333 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S3806T | c.11417G>C | Inherited Arrhythmia | LQTS | rs148654834 | SIFT: tolerated Polyphen: probably damaging |
Reports | Inherited Arrhythmia | LQTS | 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 |