No paralogue variants have been mapped to residue 466 for KCNQ1.
KCNQ1 | TCDPPEERRL--------DHFSVDGYDSSV>R<KSPTLLEV---SM----------------- | 476 |
KCNQ2 | RRSPSADQSLED-SPSKVPKSW--SFGDRS>R<ARQAF------RIKG--------------- | 500 |
KCNQ3 | -FTPLNVDAIEE-SPSKEPKPV--GLNNKE>R<FRTAF------RMKA--------------- | 480 |
KCNQ4 | PTSPSSEQVGEATSPTKVQKSW--SFNDRT>R<FRASL------RLK---------------- | 498 |
KCNQ5 | RRSPSTDITAEG-SPTKVQKSW--SFNDRT>R<FRPSL------RLKS------------S-- | 482 |
KCNA1 | ------------------------------>-<------------------------------ | |
KCNA10 | ------------------------------>-<------------------------------ | |
KCNA2 | ------------------------------>-<------------------------------ | |
KCNA3 | ------------------------------>-<------------------------------ | |
KCNA4 | ------------------------------>-<------------------------------ | |
KCNA5 | ------------------------------>-<------------------------------ | |
KCNA6 | ------------------------------>-<------------------------------ | |
KCNA7 | ------------------------------>-<------------------------------ | |
KCNB1 | ------ARSSSSPQH-----L--------->-<-----NVQQLEDMYNKMAKTQ--SQPILNT | 547 |
KCNB2 | SHEQLNNTSSSSPQH-----L--------->-<-----SAQKLEMLYNEITKTQPHSHPNPDC | 560 |
KCNC1 | ------------------------------>-<------------------------------ | |
KCNC2 | ------------------------------>-<------------------------------ | |
KCNC3 | ------------------------------>-<------------------------------ | |
KCNC4 | ------------------------------>-<------------------------------ | |
KCND1 | -------F------------T--------->-<-----DEL---------------------- | 497 |
KCND2 | -------F------------V--------->-<-----DEQ---------------------- | 497 |
KCND3 | -------F------------I--------->-<-----DEQ---------------------- | 514 |
KCNF1 | ------------------------------>-<------------------------------ | |
KCNG1 | ------------------------------>-<------------------------------ | |
KCNG2 | ------------------------------>-<------------------------------ | |
KCNG3 | ------------------------------>-<------------------------------ | |
KCNG4 | ------------------------------>-<------------------------------ | |
KCNS1 | ------------------------------>-<------------------------------ | |
KCNS2 | ------------------------------>-<------------------------------ | |
KCNS3 | ------------------------------>-<------------------------------ | |
KCNV1 | ------------------------------>-<------------------------------ | |
KCNV2 | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R466G | c.1396A>G | Other Cardiac Phenotype | SIFT: Polyphen: | ||
Reports | Other Cardiac Phenotype | Cardiac channelopathy testing in 274 ethnically diverse sudden unexplained deaths. Forensic Sci Int. 2014 237:90-9. doi: 10.1016/j.forsciint.2014.01.014. 24631775 |