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: |