| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| KCNE1 | T7I | Jervell and Lange-Nielsen syndrome | Medium | 3 | 9354783 |
To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in KCNE2.
| KCNE2 | MSTLSN---F>T<QTLEDVFRRIFITYMDNW----RQNTTAEQ | 34 |
| KCNE1 | --MILS---N>T<TAVTPFLTKLWQE---T------VQQGGN- | 26 |
| KCNE3 | METTNGTETW>Y<ESLHAVLKALNATLHSNLLCRPGPGLGPD- | 40 |
| KCNE4 | ---------->-<--------MLKMEPLNST----HPGTAASS | 18 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.T8A | c.22A>G | Conflict | rs2234916 | SIFT: deleterious Polyphen: probably damaging | |
| Reports | Other Cardiac Phenotype | A common polymorphism associated with antibiotic-induced cardiac arrhythmia. Proc Natl Acad Sci U S A. 2000 97(19):10613-8. 10984545 | |||
| Inherited Arrhythmia | LQTS | Screening for mutations and polymorphisms in the genes KCNH2 and KCNE2 encoding the cardiac HERG/MiRP1 ion channel: implications for acquired and congenital long Q-T syndrome. Clin Chem. 2001 47(8):1390-5. 11468227 | |||
| Inherited Arrhythmia | LQTS | DHPLC analysis of potassium ion channel genes in congenital long QT syndrome. Hum Mutat. 2002 20(5):382-91. 12402336 | |||
| Benign | Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome. Mayo Clin Proc. 2003 78(12):1479-87. 14661677 | ||||
| Inherited Arrhythmia | LQTS | Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients. J Mol Med (Berl). 2004 82(3):182-8. 14760488 | |||
| Putative Benign | Single nucleotide polymorphism map of five long-QT genes. J Mol Med (Berl). 2005 83(2):159-65. 15599693 | ||||
| Other Cardiac Phenotype | Association of torsades de pointes with novel and known single nucleotide polymorphisms in long QT syndrome genes. Am Heart J. 2006 152(6):1116-22. 17161064 | ||||
| Inherited Arrhythmia | LQTS | Prevalence of long-QT syndrome gene variants in sudden infant death syndrome. Circulation. 2007 115(3):361-7. 17210839 | |||
| p.T8I | c.23C>T | Putative Benign | rs35759083 | SIFT: deleterious Polyphen: probably damaging | |