No paralogue variants have been mapped to residue 462 for KCNQ1.
| KCNQ1 | VPHITCDPPEERRL--------DHFSVDGY>D<SSVRKSPTLLEV---SM------------- | 476 |
| KCNQ2 | AQTVRRSPSADQSLED-SPSKVPKSW--SF>G<DRSRARQAF------RIKG----------- | 500 |
| KCNQ3 | -----FTPLNVDAIEE-SPSKEPKPV--GL>N<NKERFRTAF------RMKA----------- | 480 |
| KCNQ4 | PPTMPTSPSSEQVGEATSPTKVQKSW--SF>N<DRTRFRASL------RLK------------ | 498 |
| KCNQ5 | SVGDRRSPSTDITAEG-SPTKVQKSW--SF>N<DRTRFRPSL------RLKS----------- | 481 |
| KCNA1 | ------------------------------>-<------------------------------ | |
| KCNA10 | ------------------------------>-<------------------------------ | |
| KCNA2 | ------------------------------>-<------------------------------ | |
| KCNA3 | ------------------------------>-<------------------------------ | |
| KCNA4 | ------------------------------>-<------------------------------ | |
| KCNA5 | ------------------------------>-<------------------------------ | |
| KCNA6 | ------------------------------>-<------------------------------ | |
| KCNA7 | ------------------------------>-<------------------------------ | |
| KCNB1 | PEK-------ARSSSSPQH-----L----->-<---------NVQQLEDMYNKMAKTQ--SQP | 543 |
| KCNB2 | SQKDSHEQLNNTSSSSPQH-----L----->-<---------SAQKLEMLYNEITKTQPHSHP | 556 |
| 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.D462N | c.1384G>A | Putative Benign | SIFT: Polyphen: |