No paralogue variants have been mapped to residue 482 for KCNQ1.
KCNQ1 | -------------------------PHFMR>T<N----------------SFAEDLDL----- | 491 |
KCNQ2 | -----------------------AASRQNS>E<E----------------ASLPGEDI----- | 517 |
KCNQ3 | ------------------------YAFWQS>S<E----------------DAGTGDPM----- | 496 |
KCNQ4 | --------------------------PRTS>A<E----------------DA-PSEEV----- | 511 |
KCNQ5 | -----------------------QPKPVID>A<D----------------TALGTDDV----- | 499 |
KCNA1 | ------------------------------>-<------------------------------ | |
KCNA10 | ------------------------------>-<------------------------------ | |
KCNA2 | ------------------------------>-<------------------------------ | |
KCNA3 | ------------------------------>-<------------------------------ | |
KCNA4 | ------------------------------>-<------------------------------ | |
KCNA5 | ------------------------------>-<------------------------------ | |
KCNA6 | ------------------------------>-<------------------------------ | |
KCNA7 | ------------------------------>-<------------------------------ | |
KCNB1 | KPKEELEMESIPSPVAPLP-TRTEGVIDMR>S<MSSIDSFISCATDFPEATRFSHSP---LTS | 611 |
KCNB2 | AYEEEIEMEEVVCPQEQLAVAQTEVIVDMK>S<TSSIDSFTSCATDFTETERSPLPPPSASHL | 629 |
KCNC1 | ------------------------------>-<------------------CPHIDQA----- | 525 |
KCNC2 | ------------------------------>-<------------------STGSEPP----- | 551 |
KCNC3 | ------------------------------>-<------------------CPAIDQP----- | 683 |
KCNC4 | ------------------------------>-<------------------GAGLTQP----- | 561 |
KCND1 | -----------------------TFSEALG>A<V----------------SPGGRT-S----- | 513 |
KCND2 | -----------------------VFEESCM>E<V----------------ATVNRPSS----- | 514 |
KCND3 | -----------------------MFEQNCM>E<S----------------SMQNYPST----- | 531 |
KCNF1 | ------------------------------>-<------------------------------ | |
KCNG1 | ------------------------------>-<------------------------------ | |
KCNG2 | ------------------------------>-<------------------------------ | |
KCNG3 | ------------------------------>-<------------------------------ | |
KCNG4 | ------------------------------>-<------------------------------ | |
KCNS1 | ------------------------------>-<------------------------------ | |
KCNS2 | ------------------------------>-<------------------------------ | |
KCNS3 | ------------------------------>-<------------------------------ | |
KCNV1 | ------------------------------>-<------------------------------ | |
KCNV2 | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T482N | c.1445C>A | Putative Benign | SIFT: Polyphen: |