No paralogue variants have been mapped to residue 214 for KCNH2.
KCNH2 | GAGGAGAPGAVVVDVDLTPAAPSSESLALD>E<VTAMDNHVAGLGPAEERRALVGPGS----- | 239 |
KCNH1 | ------------------------------>-<------------------------------ | |
KCNH3 | ------------------------------>-<------------------------------ | |
KCNH4 | ------------------------------>-<------------------------------ | |
KCNH5 | ------------------------------>-<------------------------------ | |
KCNH6 | GPG--------------------------->-<------------PG---------------- | 169 |
KCNH7 | DPD------VVVIDS----SKHSDDSVAMK>H<FKSPTKESCSPSEADDTKALIQPSK----- | 224 |
KCNH8 | ------------------------------>-<------------------------------ | |
CNGA1 | ------------------------------>-<------------------------------ | |
CNGA2 | ------------------------------>-<------------------------------ | |
CNGA3 | ------------------------------>-<------------------------------ | |
CNGA4 | ------------------------------>-<------------------------------ | |
CNGB1 | KEEAEEVAEEEAEKEPQDWAETKEEPEAEA>E<AASSGVPATKQHPEVQVEDTDADSCPLMAE | 482 |
CNGB3 | KTKSTPVTSEEPHTNIQDKLSKKN------>-<--SSGDLTTNPDPQNAAEPTGT-------- | 97 |
HCN1 | ------------------------------>-<------------------------------ | |
HCN2 | ------------------------------>-<------------------------------ | |
HCN3 | ------------------------------>-<------------------------------ | |
HCN4 | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E214K | c.640G>A | Putative Benign | SIFT: Polyphen: |