No paralogue variants have been mapped to residue 481 for KCNQ1.
KCNQ1 | --------------------------PHFM>R<TN----------------SFAEDLDL---- | 491 |
KCNQ2 | ------------------------AASRQN>S<EE----------------ASLPGEDI---- | 517 |
KCNQ3 | -------------------------YAFWQ>S<SE----------------DAGTGDPM---- | 496 |
KCNQ4 | ---------------------------PRT>S<AE----------------DA-PSEEV---- | 511 |
KCNQ5 | ------------------------QPKPVI>D<AD----------------TALGTDDV---- | 499 |
KCNA1 | ------------------------------>-<------------------------------ | |
KCNA10 | ------------------------------>-<------------------------------ | |
KCNA2 | ------------------------------>-<------------------------------ | |
KCNA3 | ------------------------------>-<------------------------------ | |
KCNA4 | ------------------------------>-<------------------------------ | |
KCNA5 | ------------------------------>-<------------------------------ | |
KCNA6 | ------------------------------>-<------------------------------ | |
KCNA7 | ------------------------------>-<------------------------------ | |
KCNB1 | SKPKEELEMESIPSPVAPLP-TRTEGVIDM>R<SMSSIDSFISCATDFPEATRFSHSP---LT | 610 |
KCNB2 | SAYEEEIEMEEVVCPQEQLAVAQTEVIVDM>K<STSSIDSFTSCATDFTETERSPLPPPSASH | 628 |
KCNC1 | ------------------------------>-<-------------------CPHIDQA---- | 525 |
KCNC2 | ------------------------------>-<-------------------STGSEPP---- | 551 |
KCNC3 | ------------------------------>-<-------------------CPAIDQP---- | 683 |
KCNC4 | ------------------------------>-<-------------------GAGLTQP---- | 561 |
KCND1 | ------------------------TFSEAL>G<AV----------------SPGGRT-S---- | 513 |
KCND2 | ------------------------VFEESC>M<EV----------------ATVNRPSS---- | 514 |
KCND3 | ------------------------MFEQNC>M<ES----------------SMQNYPST---- | 531 |
KCNF1 | ------------------------------>-<------------------------------ | |
KCNG1 | ------------------------------>-<------------------------------ | |
KCNG2 | ------------------------------>-<------------------------------ | |
KCNG3 | ------------------------------>-<------------------------------ | |
KCNG4 | ------------------------------>-<------------------------------ | |
KCNS1 | ------------------------------>-<------------------------------ | |
KCNS2 | ------------------------------>-<------------------------------ | |
KCNS3 | ------------------------------>-<------------------------------ | |
KCNV1 | ------------------------------>-<------------------------------ | |
KCNV2 | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R481I | c.1442G>T | Putative Benign | SIFT: Polyphen: |