No paralogue variants have been mapped to residue 493 for KCNQ1.
KCNQ1 | -----------------------------E>G<ET----------------LLTPITHISQLR | 507 |
KCNQ2 | -----------------------------V>D<DK----------------SCPCEFVTEDLT | 533 |
KCNQ3 | -----------------------------A>E<DR----------------GYGNDFPIEDMI | 512 |
KCNQ4 | -----------------------------A>E<EK----------------SYQCELTVDDIM | 527 |
KCNQ5 | -----------------------------Y>D<EK----------------GCQCDVSVEDLT | 515 |
KCNA1 | ------------------------------>-<--------------------TAN----CTT | 480 |
KCNA10 | ------------------------------>-<------------------------------ | |
KCNA2 | ------------------------------>-<--------------------TAN----CTL | 484 |
KCNA3 | ------------------------------>-<--------------------TAT----CTT | 558 |
KCNA4 | ------------------------------>-<--------------------GDD----SET | 638 |
KCNA5 | ------------------------------>-<------------------------------ | |
KCNA6 | ------------------------------>-<----------------------------P- | 516 |
KCNA7 | ------------------------------>-<------------------------------ | |
KCNB1 | GGSTAPEVGW-RGALGASGG----RF--VE>A<N-------PSPDASQHSSFFIESPKSSMKT | 663 |
KCNB2 | RGPPFLTLSREKGPAAR-DGTLEYAPVDIT>V<NLDASGSQCGLHSPLQSDNATDSPKSSLKG | 706 |
KCNC1 | ------------------------------>-<------------------LTPDEGLPFTRS | 537 |
KCNC2 | ------------------------------>-<------------------LSPPERLPIRRS | 563 |
KCNC3 | -----------------------------A>-<------------------MSPEDKSPIT-P | 695 |
KCNC4 | -----------------------------L>A<SS----------------PTPEERRALRRS | 577 |
KCND1 | -----------------------------R>S<TS----------------VSSQPVGPGSLL | 529 |
KCND2 | -----------------------------H>S<PS----------------LSSQQ----GVT | 526 |
KCND3 | -----------------------------R>S<PS----------------LSSHP----GLT | 543 |
KCNF1 | ------------------------------>-<------------------------------ | |
KCNG1 | ------------------------------>-<------------------------------ | |
KCNG2 | ------------------------------>-<------------------------------ | |
KCNG3 | ------------------------------>-<------------------------------ | |
KCNG4 | ------------------------------>-<------------------------------ | |
KCNS1 | ------------------------------>-<------------------------------ | |
KCNS2 | ------------------------------>-<------------------------------ | |
KCNS3 | ------------------------------>-<------------------------------ | |
KCNV1 | ------------------------------>-<------------------------------ | |
KCNV2 | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G493A | c.1478G>C | Putative Benign | SIFT: Polyphen: |