No paralogue variants have been mapped to residue 600 for KCNQ1.
KCNQ1 | -------SEKSKDRGSNTIGARLNRVEDKV>T<QLDQRLALITDMLHQLLSLHGGS------- | 623 |
KCNQ2 | -------PAEAELPEDPSMMGRLGKVEKQV>L<SMEKKLDFLVNIYMQRMGIPPTE--TEAYF | 659 |
KCNQ3 | NEPYVARPSTSEI-EDQSMMGKFVKVERQV>Q<DMGKKLDFLVDMHMQHMERLQVQ--VTE-- | 656 |
KCNQ4 | -------PSDAEVVDEISMMGRVVKVEKQV>Q<SIEHKLDLLLGFYSRCLRSGTSA--SLGAV | 655 |
KCNQ5 | -------TAEHETTDDLSMLGRVVKVEKQV>Q<SIESKLDCLLDIYQQVLRKGSASALALASF | 644 |
KCNA1 | ------------------------------>-<------------------------------ | |
KCNA10 | ------------------------------>-<------------------------------ | |
KCNA2 | ------------------------------>-<------------------------------ | |
KCNA3 | ------------------------------>-<------------------------------ | |
KCNA4 | ------------------------------>-<------------------------------ | |
KCNA5 | ------------------------------>-<------------------------------ | |
KCNA6 | ------------------------------>-<------------------------------ | |
KCNA7 | ------------------------------>-<------------------------------ | |
KCNB1 | ------------------------------>-<------------------------------ | |
KCNB2 | ------------------------------>-<------------------------------ | |
KCNC1 | ------------------------------>-<------------------------------ | |
KCNC2 | ------------------------------>-<------------------------------ | |
KCNC3 | ------------------------------>-<------------------------------ | |
KCNC4 | ------------------------------>-<------------------------------ | |
KCND1 | ------------------------------>-<------------------------------ | |
KCND2 | ------------------------------>-<------------------------------ | |
KCND3 | ------------------------------>-<------------------------------ | |
KCNF1 | ------------------------------>-<------------------------------ | |
KCNG1 | ------------------------------>-<------------------------------ | |
KCNG2 | ------------------------------>-<------------------------------ | |
KCNG3 | ------------------------------>-<------------------------------ | |
KCNG4 | ------------------------------>-<------------------------------ | |
KCNS1 | ------------------------------>-<------------------------------ | |
KCNS2 | ------------------------------>-<------------------------------ | |
KCNS3 | ------------------------------>-<------------------------------ | |
KCNV1 | ------------------------------>-<------------------------------ | |
KCNV2 | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T600M | c.1799C>T | Inherited Arrhythmia | LQTS | rs34516117 | SIFT: tolerated Polyphen: possibly 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 | A map of human genome variation from population-scale sequencing. Nature. 2010 467(7319):1061-73. 20981092 | |||
Inherited Arrhythmia | LQTS | An informatics approach to analyzing the incidentalome. Genet Med. 2013 15(1):36-44. doi: 10.1038/gim.2012.112. 22995991 | |||
Inherited Arrhythmia | LQTS | Mutations in Genes Encoding Cardiac Ion Channels Previously Associated With Sudden Infant Death Syndrome (SIDS) Are Present With High Frequency in New Exome Data. Can J Cardiol. 2013 23465283 | |||
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 |