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 | |||