No paralogue variants have been mapped to residue 32 for KCNE1.
| KCNE1 | LTKLWQE---T------VQQGGN-MSGLA->R<RSPRSSDGKLEALYVLMVLGFFGFFTLGIM | 62 |
| KCNE2 | FRRIFITYMDNW----RQNTTAEQEALQA->K<VDAENFY--YVILYLMVMIGMFSFIIVAIL | 68 |
| KCNE3 | LKALNATLHSNLLCRPGPGLGPD-NQTEER>R<ASLPGR-DDNSYMYILFVMFLFAVTVGSLI | 76 |
| KCNE4 | --MLKMEPLNST----HPGTAASSSPLES->R<AAGGGSGNGNEYFYILVVMSFYGIFLIGIM | 54 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R32H | c.95G>A | Inherited Arrhythmia | LQTS | rs17857111 | SIFT: tolerated Polyphen: possibly damaging |
| Reports | Inherited Arrhythmia | LQTS | Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation. 2000 102(10):1178-85. 10973849 | ||
| Inherited Arrhythmia | LQTS | Compound mutations: a common cause of severe long-QT syndrome. Circulation. 2004 109(15):1834-41. 15051636 | |||
| Inherited Arrhythmia | LQTS | Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers. Scand J Clin Lab Invest. 2008 68(5):362-8. 18752142 | |||
| Inherited Arrhythmia | LQTS | Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085 | |||
| p.R32C | c.94C>T | Inherited Arrhythmia | LQTS | rs200963514 | SIFT: tolerated Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Family-based cardiac screening in relatives of victims of sudden arrhythmic death syndrome. Europace. 2013 15(7):1050-8. doi: 10.1093/europace/eus408. 23382499 | ||