No paralogue variants have been mapped to residue 444 for KCNQ1.
KCNQ1 | -----------------TP-GEKMLTVPHI>T<CDPPEERRL--------DHFSVDGYDSSVR | 466 |
KCNQ2 | -----------------AAKGKGSPQAQTV>R<RSPSADQSLED-SPSKVPKSW--SFGDRSR | 491 |
KCNQ3 | -----------------NTKGKL------->-<FTPLNVDAIEE-SPSKEPKPV--GLNNKER | 471 |
KCNQ4 | -----------------TGPSKQHLAPPTM>P<TSPSSEQVGEATSPTKVQKSW--SFNDRTR | 490 |
KCNQ5 | -----------------SIKSRQ--ASVGD>R<RSPSTDITAEG-SPTKVQKSW--SFNDRTR | 472 |
KCNA1 | ------------------------------>-<------------------------------ | |
KCNA10 | ------------------------------>-<------------------------------ | |
KCNA2 | ------------------------------>-<------------------------------ | |
KCNA3 | ------------------------------>-<------------------------------ | |
KCNA4 | ------------------------------>-<------------------------------ | |
KCNA5 | ------------------------------>-<------------------------------ | |
KCNA6 | ------------------------------>-<------------------------------ | |
KCNA7 | ------------------------------>-<------------------------------ | |
KCNB1 | -----------------SFETKEQGSPEK->-<-----ARSSSSPQH-----L---------- | 524 |
KCNB2 | -----------------SFENKYQEVSQKD>S<HEQLNNTSSSSPQH-----L---------- | 535 |
KCNC1 | ------------------------------>-<------------------------------ | |
KCNC2 | ------------------------------>-<------------------------------ | |
KCNC3 | ------------------------------>-<------------------------------ | |
KCNC4 | ------------------------------>-<------------------------------ | |
KCND1 | -----------------CHE---------->-<------F------------T---------- | 494 |
KCND2 | -----------------NHE---------->-<------F------------V---------- | 494 |
KCND3 | SYLVDDPLLSVRTSTIKNHE---------->-<------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.T444M | c.1331C>T | Putative Benign | SIFT: Polyphen: | ||
p.T444K | c.1331C>A | Putative Benign | SIFT: Polyphen: |