No paralogue variants have been mapped to residue 293 for KCNH2.
KCNH2 | RSRESCASVRRASSADDIEAM--------R>A<GVLPPPPRHASTGAMHPLRSGLLNSTSDSD | 323 |
KCNH1 | ------------------------------>-<------------------------------ | |
KCNH3 | R----------------------------->-<------------------------------ | 159 |
KCNH4 | G----------------------------->-<------------------------------ | 160 |
KCNH5 | ------------------------------>-<------------------------------ | |
KCNH6 | ------------------------------>-<----------------------------TG | 171 |
KCNH7 | RSRESLCSIRRASSVHDIEGFGVHPKNIFR>D<RHASEDNGRNVKGPFNHIKSSLLGSTSDSN | 322 |
KCNH8 | R----------------------------->-<------------------------------ | 155 |
CNGA1 | ------------------------------>-<------------------------------ | |
CNGA2 | ------------------------------>-<------------------------------ | |
CNGA3 | ------------------------------>-<------------------------------ | |
CNGA4 | ------------------------------>-<------------------------------ | |
CNGB1 | EA-E---------ELKALSPAESPVVAWSD>P<TTPKDTDGQDRAASTASTNSAIINDRLQEL | 571 |
CNGB3 | -------------EQKEMDPGKE------G>P<NSPQNK------PPAAPVINEYADAQLHNL | 135 |
HCN1 | ------------------------------>-<------------------------------ | |
HCN2 | ------------------------------>-<------------------------------ | |
HCN3 | ------------------------------>-<------------------------------ | |
HCN4 | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Ala293Ser | c.877G>T | Unknown | SIFT: Polyphen: |