No paralogue variants have been mapped to residue 449 for KCNQ1.
KCNQ1 | ------------TP-GEKMLTVPHITCDPP>E<ERRL--------DHFSVDGYDSSVRKSPTL | 471 |
KCNQ2 | ------------AAKGKGSPQAQTVRRSPS>A<DQSLED-SPSKVPKSW--SFGDRSRARQAF | 496 |
KCNQ3 | ------------NTKGKL--------FTPL>N<VDAIEE-SPSKEPKPV--GLNNKERFRTAF | 476 |
KCNQ4 | ------------TGPSKQHLAPPTMPTSPS>S<EQVGEATSPTKVQKSW--SFNDRTRFRASL | 495 |
KCNQ5 | ------------SIKSRQ--ASVGDRRSPS>T<DITAEG-SPTKVQKSW--SFNDRTRFRPSL | 477 |
KCNA1 | ------------------------------>-<------------------------------ | |
KCNA10 | ------------------------------>-<------------------------------ | |
KCNA2 | ------------------------------>-<------------------------------ | |
KCNA3 | ------------------------------>-<------------------------------ | |
KCNA4 | ------------------------------>-<------------------------------ | |
KCNA5 | ------------------------------>-<------------------------------ | |
KCNA6 | ------------------------------>-<------------------------------ | |
KCNA7 | ------------------------------>-<------------------------------ | |
KCNB1 | ------------SFETKEQGSPEK------>-<ARSSSSPQH-----L--------------- | 524 |
KCNB2 | ------------SFENKYQEVSQKDSHEQL>N<NTSSSSPQH-----L--------------- | 535 |
KCNC1 | ------------------------------>-<------------------------------ | |
KCNC2 | ------------------------------>-<------------------------------ | |
KCNC3 | ------------------------------>-<------------------------------ | |
KCNC4 | ------------------------------>-<------------------------------ | |
KCND1 | ------------CHE--------------->-<-F------------T--------------- | 494 |
KCND2 | ------------NHE--------------->-<-F------------V--------------- | 494 |
KCND3 | DPLLSVRTSTIKNHE--------------->-<-F------------I--------------- | 511 |
KCNF1 | ------------------------------>-<------------------------------ | |
KCNG1 | ------------------------------>-<------------------------------ | |
KCNG2 | ------------------------------>-<------------------------------ | |
KCNG3 | ------------------------------>-<------------------------------ | |
KCNG4 | ------------------------------>-<------------------------------ | |
KCNS1 | ------------------------------>-<------------------------------ | |
KCNS2 | ------------------------------>-<------------------------------ | |
KCNS3 | ------------ENCTA------------->-<------------------------------ | 490 |
KCNV1 | ------------------------------>-<------------------------------ | |
KCNV2 | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E449K | c.1345G>A | Putative Benign | rs372583676 | SIFT: tolerated Polyphen: benign |