No paralogue variants have been mapped to residue 459 for KCNQ1.
KCNQ1 | MLTVPHITCDPPEERRL--------DHFSV>D<GYDSSVRKSPTLLEV---SM---------- | 476 |
KCNQ2 | SPQAQTVRRSPSADQSLED-SPSKVPKSW->-<SFGDRSRARQAF------RIKG-------- | 500 |
KCNQ3 | --------FTPLNVDAIEE-SPSKEPKPV->-<GLNNKERFRTAF------RMKA-------- | 480 |
KCNQ4 | HLAPPTMPTSPSSEQVGEATSPTKVQKSW->-<SFNDRTRFRASL------RLK--------- | 498 |
KCNQ5 | --ASVGDRRSPSTDITAEG-SPTKVQKSW->-<SFNDRTRFRPSL------RLKS-------- | 481 |
KCNA1 | ------------------------------>-<------------------------------ | |
KCNA10 | ------------------------------>-<------------------------------ | |
KCNA2 | ------------------------------>-<------------------------------ | |
KCNA3 | ------------------------------>-<------------------------------ | |
KCNA4 | ------------------------------>-<------------------------------ | |
KCNA5 | ------------------------------>-<------------------------------ | |
KCNA6 | ------------------------------>-<------------------------------ | |
KCNA7 | ------------------------------>-<------------------------------ | |
KCNB1 | QGSPEK-------ARSSSSPQH-----L-->-<------------NVQQLEDMYNKMAKTQ-- | 540 |
KCNB2 | QEVSQKDSHEQLNNTSSSSPQH-----L-->-<------------SAQKLEMLYNEITKTQPH | 553 |
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.D459N | c.1375G>A | Putative Benign | SIFT: Polyphen: |