Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
---|---|---|---|---|---|
KCNE1 | A8V | Long QT syndrome | Low | 2 | 17341399, 24400172, 25637381 |
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---FT>Q<TLEDVFRRIFITYMDNW----RQNTTAEQE | 35 |
KCNE1 | --MILS---NT>T<AVTPFLTKLWQE---T------VQQGGN-M | 27 |
KCNE3 | METTNGTETWY>E<SLHAVLKALNATLHSNLLCRPGPGLGPD-N | 41 |
KCNE4 | ----------->-<-------MLKMEPLNST----HPGTAASSS | 19 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Q9E | c.25C>G | Conflict | rs16991652 | SIFT: tolerated Polyphen: benign | |
Reports | Other Cardiac Phenotype | MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia. Cell. 1999 97(2):175-87. 10219239 | |||
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 | |||
Inherited Arrhythmia | LQTS | Prevalence of long-QT syndrome gene variants in sudden infant death syndrome. Circulation. 2007 115(3):361-7. 17210839 | |||
Other Cardiac Phenotype | A map of human genome variation from population-scale sequencing. Nature. 2010 467(7319):1061-73. 20981092 | ||||
p.Q9R | c.26A>G | Putative Benign | SIFT: Polyphen: |