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 |