No paralogue variants have been mapped to residue 3811 for ANK2.
ANK2 | QEPEEP-------------SEHREESSPRK>T<SLVIVESAD--NQPE-TCERLDEDAAFEKG | 3838 |
ANK1 | TEGLEPGGSQEYEKVLVSVSEHTWTEQPEA>E<SSQADRDRRQQGQEEQVQEAKNTFTQVVQG | 1799 |
ANK3 | EEPASP-------------LAAYQKSLEET>S<KLIIEETKP--CVPV-SMKKMSRTSPADGK | 4338 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T3811N | c.11432C>A | Inherited Arrhythmia | LQTS | rs199473643 | SIFT: tolerated Polyphen: benign |
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 |