No paralogue variants have been mapped to residue 285 for KCNH2.
KCNH2 | ------CSL----ARTRSRESCASVRRASS>A<DDIEAM--------RAGVLPPPPRHASTGA | 307 |
KCNH1 | ------------------------------>-<------------------------------ | |
KCNH3 | -------RY----GRAR------------->-<------------------------------ | 159 |
KCNH4 | -------SL----GRRG------------->-<------------------------------ | 160 |
KCNH5 | ------------------------------>-<------------------------------ | |
KCNH6 | ------------------------------>-<------------------------------ | |
KCNH7 | ------SQL----SHSRSRESLCSIRRASS>V<HDIEGFGVHPKNIFRDRHASEDNGRNVKGP | 306 |
KCNH8 | -------VK----GRSR------------->-<------------------------------ | 155 |
CNGA1 | ------------------------------>-<------------------------------ | |
CNGA2 | ------------------------------>-<------------------------------ | |
CNGA3 | ------------------------------>-<------------------------------ | |
CNGA4 | ------------------------------>-<------------------------------ | |
CNGB1 | SSASGTHRKKLPSEDDEA-E---------E>L<KALSPAESPVVAWSDPTTPKDTDGQDRAAS | 555 |
CNGB3 | -----------------------------E>Q<KEMDPGKE------GPNSPQNK------PP | 119 |
HCN1 | ------------------------------>-<------------------------------ | |
HCN2 | ------------------------------>-<------------------------------ | |
HCN3 | ------------------------------>-<------------------------------ | |
HCN4 | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Ala285Thr | c.853G>A | Unknown | SIFT: Polyphen: | ||
p.Ala285Ser | c.853G>T | Unknown | SIFT: Polyphen: |