No paralogue variants have been mapped to residue 484 for KCNQ1.
KCNQ1 | -------PHFMRTN---------------->S<FAEDLDL----------------------- | 491 |
KCNQ2 | -----AASRQNSEE---------------->A<SLPGEDI----------------------- | 517 |
KCNQ3 | ------YAFWQSSE---------------->D<AGTGDPM----------------------- | 496 |
KCNQ4 | --------PRTSAE---------------->D<A-PSEEV----------------------- | 511 |
KCNQ5 | -----QPKPVIDAD---------------->T<ALGTDDV----------------------- | 499 |
KCNA1 | ------------------------------>-<------------------------------ | |
KCNA10 | ------------------------------>-<------------------------------ | |
KCNA2 | ------------------------------>-<------------------------------ | |
KCNA3 | ------------------------------>-<------------------------------ | |
KCNA4 | ------------------------------>-<------------------------------ | |
KCNA5 | ------------------------------>-<------------------------------ | |
KCNA6 | ------------------------------>-<------------------------------ | |
KCNA7 | ------------------------------>-<------------------------------ | |
KCNB1 | P-TRTEGVIDMRSMSSIDSFISCATDFPEA>T<RFSHSP---LTSLP------------SKTG | 617 |
KCNB2 | AVAQTEVIVDMKSTSSIDSFTSCATDFTET>E<RSPLPPPSASHLQMKFPTDLPGTEEHQRAR | 647 |
KCNC1 | ------------------------------>-<CPHIDQA----------------------- | 525 |
KCNC2 | ------------------------------>-<STGSEPP----------------------- | 551 |
KCNC3 | ------------------------------>-<CPAIDQP----------------------- | 683 |
KCNC4 | ------------------------------>-<GAGLTQP----------------------- | 561 |
KCND1 | -----TFSEALGAV---------------->S<PGGRT-S----------------------- | 513 |
KCND2 | -----VFEESCMEV---------------->A<TVNRPSS----------------------- | 514 |
KCND3 | -----MFEQNCMES---------------->S<MQNYPST----------------------- | 531 |
KCNF1 | ------------------------------>-<------------------------------ | |
KCNG1 | ------------------------------>-<------------------------------ | |
KCNG2 | ------------------------------>-<------------------------------ | |
KCNG3 | ------------------------------>-<------------------------------ | |
KCNG4 | ------------------------------>-<------------------------------ | |
KCNS1 | ------------------------------>-<------------------------------ | |
KCNS2 | ------------------------------>-<------------------------------ | |
KCNS3 | ------------------------------>-<------------------------------ | |
KCNV1 | ------------------------------>-<------------------------------ | |
KCNV2 | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S484T | c.1451G>C | Putative Benign | rs199473477 | SIFT: tolerated Polyphen: probably damaging | |
Reports | Putative Benign | Single nucleotide polymorphism map of five long-QT genes. J Mol Med (Berl). 2005 83(2):159-65. 15599693 |