No paralogue variants have been mapped to residue 310 for KCNH2.
| KCNH2 | IEAM--------RAGVLPPPPRHASTGAMH>P<LRSGLLNSTSDSDLVRYR---TISKIPQIT | 337 |
| KCNH1 | ------------------------------>-<---------------KFA------------ | 152 |
| KCNH3 | ------------------------------>-<----------------S------------- | 160 |
| KCNH4 | ------------------------------>-<----------------A------------- | 161 |
| KCNH5 | ------------------------------>-<---------------KFA------------ | 150 |
| KCNH6 | ------------------------------>-<-----------TGRGKYR---TISQIPQFT | 185 |
| KCNH7 | IEGFGVHPKNIFRDRHASEDNGRNVKGPFN>H<IKSSLLGSTSDSNLNKYS---TINKIPQLT | 336 |
| KCNH8 | ------------------------------>-<----------------A------------- | 156 |
| CNGA1 | ------------------------------>-<------------------------------ | |
| CNGA2 | ------------------------------>-<------------------------------ | |
| CNGA3 | ------------------------------>-<------------------------------ | |
| CNGA4 | ------------------------------>-<------------------------------ | |
| CNGB1 | LSPAESPVVAWSDPTTPKDTDGQDRAASTA>S<TNSAIINDRLQELVKLFKERTEKV-KEKLI | 587 |
| CNGB3 | MDPGKE------GPNSPQNK------PPAA>P<VINEYADAQLHNLVKRMRQRTALY-KKKLV | 151 |
| HCN1 | ------------------------------>-<------------------------------ | |
| HCN2 | ------------------------------>-<------------------------------ | |
| HCN3 | ------------------------------>-<------------------------------ | |
| HCN4 | ------------------------------>-<------------------------------ | |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.P310L | c.929C>T | Putative Benign | SIFT: Polyphen: |