No paralogue variants have been mapped to residue 442 for KCNQ1.
KCNQ1 | -------------------TP-GEKMLTVP>H<ITCDPPEERRL--------DHFSVDGYDSS | 464 |
KCNQ2 | -------------------AAKGKGSPQAQ>T<VRRSPSADQSLED-SPSKVPKSW--SFGDR | 489 |
KCNQ3 | -------------------NTKGKL----->-<--FTPLNVDAIEE-SPSKEPKPV--GLNNK | 469 |
KCNQ4 | -------------------TGPSKQHLAPP>T<MPTSPSSEQVGEATSPTKVQKSW--SFNDR | 488 |
KCNQ5 | -------------------SIKSRQ--ASV>G<DRRSPSTDITAEG-SPTKVQKSW--SFNDR | 470 |
KCNA1 | ------------------------------>-<------------------------------ | |
KCNA10 | ------------------------------>-<------------------------------ | |
KCNA2 | ------------------------------>-<------------------------------ | |
KCNA3 | ------------------------------>-<------------------------------ | |
KCNA4 | ------------------------------>-<------------------------------ | |
KCNA5 | ------------------------------>-<------------------------------ | |
KCNA6 | ------------------------------>-<------------------------------ | |
KCNA7 | ------------------------------>-<------------------------------ | |
KCNB1 | -------------------SFETKEQGSPE>K<-------ARSSSSPQH-----L-------- | 524 |
KCNB2 | -------------------SFENKYQEVSQ>K<DSHEQLNNTSSSSPQH-----L-------- | 535 |
KCNC1 | ------------------------------>-<------------------------------ | |
KCNC2 | ------------------------------>-<------------------------------ | |
KCNC3 | ------------------------------>-<------------------------------ | |
KCNC4 | ------------------------------>-<------------------------------ | |
KCND1 | -------------------CHE-------->-<--------F------------T-------- | 494 |
KCND2 | -------------------NHE-------->-<--------F------------V-------- | 494 |
KCND3 | GLSYLVDDPLLSVRTSTIKNHE-------->-<--------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.H442D | c.1324C>G | Putative Benign | rs72549409 | SIFT: tolerated Polyphen: benign | |
p.H442R | c.1325A>G | Putative Benign | SIFT: Polyphen: |