No paralogue variants have been mapped to residue 309 for KCNH2.
KCNH2 | DIEAM--------RAGVLPPPPRHASTGAM>H<PLRSGLLNSTSDSDLVRYR---TISKIPQI | 336 |
KCNH1 | ------------------------------>-<----------------KFA----------- | 152 |
KCNH3 | ------------------------------>-<-----------------S------------ | 160 |
KCNH4 | ------------------------------>-<-----------------A------------ | 161 |
KCNH5 | ------------------------------>-<----------------KFA----------- | 150 |
KCNH6 | ------------------------------>-<------------TGRGKYR---TISQIPQF | 184 |
KCNH7 | DIEGFGVHPKNIFRDRHASEDNGRNVKGPF>N<HIKSSLLGSTSDSNLNKYS---TINKIPQL | 335 |
KCNH8 | ------------------------------>-<-----------------A------------ | 156 |
CNGA1 | ------------------------------>-<------------------------------ | |
CNGA2 | ------------------------------>-<------------------------------ | |
CNGA3 | ------------------------------>-<------------------------------ | |
CNGA4 | ------------------------------>-<------------------------------ | |
CNGB1 | ALSPAESPVVAWSDPTTPKDTDGQDRAAST>A<STNSAIINDRLQELVKLFKERTEKV-KEKL | 586 |
CNGB3 | EMDPGKE------GPNSPQNK------PPA>A<PVINEYADAQLHNLVKRMRQRTALY-KKKL | 150 |
HCN1 | ------------------------------>-<------------------------------ | |
HCN2 | ------------------------------>-<------------------------------ | |
HCN3 | ------------------------------>-<------------------------------ | |
HCN4 | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.H309Q | c.927C>A | Putative Benign | SIFT: Polyphen: |