No paralogue variants have been mapped to residue 27 for KCNE2.
| KCNE2 | LSN---FTQTLEDVFRRIFITYMDNW---->R<QNTTAEQEALQA-KVDAENFY--YVILYLM | 54 |
| KCNE1 | ILS---NTTAVTPFLTKLWQE---T----->-<VQQGGN-MSGLA-RRSPRSSDGKLEALYVL | 48 |
| KCNE3 | TNGTETWYESLHAVLKALNATLHSNLLCRP>G<PGLGPD-NQTEERRASLPGR-DDNSYMYIL | 62 |
| KCNE4 | ----------------MLKMEPLNST---->H<PGTAASSSPLES-RAAGGGSGNGNEYFYIL | 40 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R27C | c.79C>T | Inherited Arrhythmia | LQTS | rs74315449 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Other Cardiac Phenotype | Identification of a KCNE2 gain-of-function mutation in patients with familial atrial fibrillation. Am J Hum Genet. 2004 75(5):899-905. 15368194 | |||
| Inherited Arrhythmia | LQTS | Genetic polymorphisms in KCNQ1, HERG, KCNE1 and KCNE2 genes in the Chinese, Malay and Indian populations of Singapore. Br J Clin Pharmacol. 2006 61(3):301-8. 16487223 | |||
| Other Cardiac Phenotype | KCNE2 modulates cardiac L-type Ca(2+) channel. J Mol Cell Cardiol. 2014 72:208-18. doi: 10.1016/j.yjmcc.2014.03.013. 24681347 | ||||
| p.R27H | c.80G>A | Inherited Arrhythmia | LQTS | rs148968498 | SIFT: deleterious Polyphen: probably damaging |
| Reports | 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 | ||
| Inherited Arrhythmia | LQTS | Actionable, pathogenic incidental findings in 1,000 participants' exomes. Am J Hum Genet. 2013 93(4):631-40. doi: 10.1016/j.ajhg.2013.08.006. 24055113 | |||
| Unknown | Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 25(3):305-15. doi: 10.1101/gr.183483.114. 25637381 | ||||