No paralogue variants have been mapped to residue 447 for KCNQ1.
KCNQ1 | --------------TP-GEKMLTVPHITCD>P<PEERRL--------DHFSVDGYDSSVRKSP | 469 |
KCNQ2 | --------------AAKGKGSPQAQTVRRS>P<SADQSLED-SPSKVPKSW--SFGDRSRARQ | 494 |
KCNQ3 | --------------NTKGKL--------FT>P<LNVDAIEE-SPSKEPKPV--GLNNKERFRT | 474 |
KCNQ4 | --------------TGPSKQHLAPPTMPTS>P<SSEQVGEATSPTKVQKSW--SFNDRTRFRA | 493 |
KCNQ5 | --------------SIKSRQ--ASVGDRRS>P<STDITAEG-SPTKVQKSW--SFNDRTRFRP | 475 |
KCNA1 | ------------------------------>-<------------------------------ | |
KCNA10 | ------------------------------>-<------------------------------ | |
KCNA2 | ------------------------------>-<------------------------------ | |
KCNA3 | ------------------------------>-<------------------------------ | |
KCNA4 | ------------------------------>-<------------------------------ | |
KCNA5 | ------------------------------>-<------------------------------ | |
KCNA6 | ------------------------------>-<------------------------------ | |
KCNA7 | ------------------------------>-<------------------------------ | |
KCNB1 | --------------SFETKEQGSPEK---->-<--ARSSSSPQH-----L------------- | 524 |
KCNB2 | --------------SFENKYQEVSQKDSHE>Q<LNNTSSSSPQH-----L------------- | 535 |
KCNC1 | ------------------------------>-<------------------------------ | |
KCNC2 | ------------------------------>-<------------------------------ | |
KCNC3 | ------------------------------>-<------------------------------ | |
KCNC4 | ------------------------------>-<------------------------------ | |
KCND1 | --------------CHE------------->-<---F------------T------------- | 494 |
KCND2 | --------------NHE------------->-<---F------------V------------- | 494 |
KCND3 | VDDPLLSVRTSTIKNHE------------->-<---F------------I------------- | 511 |
KCNF1 | ------------------------------>-<------------------------------ | |
KCNG1 | ------------------------------>-<------------------------------ | |
KCNG2 | ------------------------------>-<------------------------------ | |
KCNG3 | ------------------------------>-<------------------------------ | |
KCNG4 | ------------------------------>-<------------------------------ | |
KCNS1 | ------------------------------>-<------------------------------ | |
KCNS2 | ------------------------------>-<------------------------------ | |
KCNS3 | --------------ENCTA----------->-<------------------------------ | 490 |
KCNV1 | ------------------------------>-<------------------------------ | |
KCNV2 | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P447H | c.1340C>A | Putative Benign | rs143149582 | SIFT: tolerated Polyphen: benign |