No paralogue variants have been mapped to residue 473 for KCNQ1.
KCNQ1 | RRL--------DHFSVDGYDSSVRKSPTLL>E<V---SM------------------------ | 476 |
KCNQ2 | QSLED-SPSKVPKSW--SFGDRSRARQAF->-<----RIKG---------------------- | 500 |
KCNQ3 | DAIEE-SPSKEPKPV--GLNNKERFRTAF->-<----RMKA---------------------- | 480 |
KCNQ4 | QVGEATSPTKVQKSW--SFNDRTRFRASL->-<----RLK----------------------- | 498 |
KCNQ5 | ITAEG-SPTKVQKSW--SFNDRTRFRPSL->-<----RLKS------------S--------- | 482 |
KCNA1 | ------------------------------>-<------------------------------ | |
KCNA10 | ------------------------------>-<------------------------------ | |
KCNA2 | ------------------------------>-<------------------------------ | |
KCNA3 | ------------------------------>-<------------------------------ | |
KCNA4 | ------------------------------>-<------------------------------ | |
KCNA5 | ------------------------------>-<------------------------------ | |
KCNA6 | ------------------------------>-<------------------------------ | |
KCNA7 | ------------------------------>-<------------------------------ | |
KCNB1 | RSSSSPQH-----L---------------N>V<QQLEDMYNKMAKTQ--SQPILNTKESAAQ- | 553 |
KCNB2 | TSSSSPQH-----L---------------S>A<QKLEMLYNEITKTQPHSHPNPDCQEKPERP | 567 |
KCNC1 | ------------------------------>-<------------------------------ | |
KCNC2 | ------------------------------>-<------------------------------ | |
KCNC3 | ------------------------------>-<------------------------------ | |
KCNC4 | ------------------------------>-<------------------------------ | |
KCND1 | F------------T---------------D>E<L----------------------------- | 497 |
KCND2 | F------------V---------------D>E<Q----------------------------- | 497 |
KCND3 | F------------I---------------D>E<Q----------------------------- | 514 |
KCNF1 | ------------------------------>-<------------------------------ | |
KCNG1 | ------------------------------>-<------------------------------ | |
KCNG2 | ------------------------------>-<------------------------------ | |
KCNG3 | ------------------------------>-<------------------------------ | |
KCNG4 | ------------------------------>-<------------------------------ | |
KCNS1 | ------------------------------>-<------------------------------ | |
KCNS2 | ------------------------------>-<------------------------------ | |
KCNS3 | ------------------------------>-<------------------------------ | |
KCNV1 | ------------------------------>-<------------------------------ | |
KCNV2 | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E473Q | c.1417G>C | Putative Benign | SIFT: Polyphen: |