No paralogue variants have been mapped to residue 450 for KCNQ1.
KCNQ1 | -----------TP-GEKMLTVPHITCDPPE>E<RRL--------DHFSVDGYDSSVRKSPTLL | 472 |
KCNQ2 | -----------AAKGKGSPQAQTVRRSPSA>D<QSLED-SPSKVPKSW--SFGDRSRARQAF- | 496 |
KCNQ3 | -----------NTKGKL--------FTPLN>V<DAIEE-SPSKEPKPV--GLNNKERFRTAF- | 476 |
KCNQ4 | -----------TGPSKQHLAPPTMPTSPSS>E<QVGEATSPTKVQKSW--SFNDRTRFRASL- | 495 |
KCNQ5 | -----------SIKSRQ--ASVGDRRSPST>D<ITAEG-SPTKVQKSW--SFNDRTRFRPSL- | 477 |
KCNA1 | ------------------------------>-<------------------------------ | |
KCNA10 | ------------------------------>-<------------------------------ | |
KCNA2 | ------------------------------>-<------------------------------ | |
KCNA3 | ------------------------------>-<------------------------------ | |
KCNA4 | ------------------------------>-<------------------------------ | |
KCNA5 | ------------------------------>-<------------------------------ | |
KCNA6 | ------------------------------>-<------------------------------ | |
KCNA7 | ------------------------------>-<------------------------------ | |
KCNB1 | -----------SFETKEQGSPEK------->A<RSSSSPQH-----L---------------N | 525 |
KCNB2 | -----------SFENKYQEVSQKDSHEQLN>N<TSSSSPQH-----L---------------S | 536 |
KCNC1 | ------------------------------>-<------------------------------ | |
KCNC2 | ------------------------------>-<------------------------------ | |
KCNC3 | ------------------------------>-<------------------------------ | |
KCNC4 | ------------------------------>-<------------------------------ | |
KCND1 | -----------CHE---------------->-<F------------T---------------D | 495 |
KCND2 | -----------NHE---------------->-<F------------V---------------D | 495 |
KCND3 | PLLSVRTSTIKNHE---------------->-<F------------I---------------D | 512 |
KCNF1 | ------------------------------>-<------------------------------ | |
KCNG1 | ------------------------------>-<------------------------------ | |
KCNG2 | ------------------------------>-<------------------------------ | |
KCNG3 | ------------------------------>-<------------------------------ | |
KCNG4 | ------------------------------>-<------------------------------ | |
KCNS1 | ------------------------------>-<------------------------------ | |
KCNS2 | ------------------------------>-<------------------------------ | |
KCNS3 | -----------ENCTA-------------->-<------------------------------ | 490 |
KCNV1 | ------------------------------>-<------------------------------ | |
KCNV2 | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E450K | c.1348G>A | Putative Benign | rs148266527 | SIFT: tolerated Polyphen: benign |