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: |