No paralogue variants have been mapped to residue 463 for KCNQ1.
KCNQ1 | PHITCDPPEERRL--------DHFSVDGYD>S<SVRKSPTLLEV---SM-------------- | 476 |
KCNQ2 | QTVRRSPSADQSLED-SPSKVPKSW--SFG>D<RSRARQAF------RIKG------------ | 500 |
KCNQ3 | ----FTPLNVDAIEE-SPSKEPKPV--GLN>N<KERFRTAF------RMKA------------ | 480 |
KCNQ4 | PTMPTSPSSEQVGEATSPTKVQKSW--SFN>D<RTRFRASL------RLK------------- | 498 |
KCNQ5 | VGDRRSPSTDITAEG-SPTKVQKSW--SFN>D<RTRFRPSL------RLKS------------ | 481 |
KCNA1 | ------------------------------>-<------------------------------ | |
KCNA10 | ------------------------------>-<------------------------------ | |
KCNA2 | ------------------------------>-<------------------------------ | |
KCNA3 | ------------------------------>-<------------------------------ | |
KCNA4 | ------------------------------>-<------------------------------ | |
KCNA5 | ------------------------------>-<------------------------------ | |
KCNA6 | ------------------------------>-<------------------------------ | |
KCNA7 | ------------------------------>-<------------------------------ | |
KCNB1 | EK-------ARSSSSPQH-----L------>-<--------NVQQLEDMYNKMAKTQ--SQPI | 544 |
KCNB2 | QKDSHEQLNNTSSSSPQH-----L------>-<--------SAQKLEMLYNEITKTQPHSHPN | 557 |
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.S463T | c.1388G>C | Putative Benign | rs184636161 | SIFT: tolerated Polyphen: benign |