No paralogue variants have been mapped to residue 20 for KCNE1.
KCNE1 | --MILS---NTTAVTPFLTKLWQE--->T<------VQQGGN-MSGLA-RRSPRSSDGKL | 42 |
KCNE2 | MSTLSN---FTQTLEDVFRRIFITYMD>N<W----RQNTTAEQEALQA-KVDAENFY--Y | 48 |
KCNE3 | METTNGTETWYESLHAVLKALNATLHS>N<LLCRPGPGLGPD-NQTEERRASLPGR-DDN | 56 |
KCNE4 | -------------------MLKMEPLN>S<T----HPGTAASSSPLES-RAAGGGSGNGN | 34 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T20I | c.59C>T | Inherited Arrhythmia | LQTS | rs199473349 | SIFT: tolerated Polyphen: possibly damaging |
Reports | Inherited Arrhythmia | LQTS | Contribution of long-QT syndrome genetic variants in sudden infant death syndrome. Pediatr Cardiol. 2009 30(4):502-9. 19322600 |