No paralogue variants have been mapped to residue 468 for KCNQ1.
KCNQ1 | DPPEERRL--------DHFSVDGYDSSVRK>S<PTLLEV---SM------------------- | 476 |
KCNQ2 | SPSADQSLED-SPSKVPKSW--SFGDRSRA>R<QAF------RIKG----------------- | 500 |
KCNQ3 | TPLNVDAIEE-SPSKEPKPV--GLNNKERF>R<TAF------RMKA----------------- | 480 |
KCNQ4 | SPSSEQVGEATSPTKVQKSW--SFNDRTRF>R<ASL------RLK------------------ | 498 |
KCNQ5 | SPSTDITAEG-SPTKVQKSW--SFNDRTRF>R<PSL------RLKS------------S---- | 482 |
KCNA1 | ------------------------------>-<------------------------------ | |
KCNA10 | ------------------------------>-<------------------------------ | |
KCNA2 | ------------------------------>-<------------------------------ | |
KCNA3 | ------------------------------>-<------------------------------ | |
KCNA4 | ------------------------------>-<------------------------------ | |
KCNA5 | ------------------------------>-<------------------------------ | |
KCNA6 | ------------------------------>-<------------------------------ | |
KCNA7 | ------------------------------>-<------------------------------ | |
KCNB1 | ----ARSSSSPQH-----L----------->-<---NVQQLEDMYNKMAKTQ--SQPILNTKE | 549 |
KCNB2 | EQLNNTSSSSPQH-----L----------->-<---SAQKLEMLYNEITKTQPHSHPNPDCQE | 562 |
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.S468G | c.1402A>G | Putative Benign | SIFT: Polyphen: |