No paralogue variants have been mapped to residue 307 for KCNH2.
KCNH2 | ADDIEAM--------RAGVLPPPPRHASTG>A<MHPLRSGLLNSTSDSDLVRYR---TISKIP | 334 |
KCNH1 | ------------------------------>-<------------------KFA--------- | 152 |
KCNH3 | ------------------------------>-<-------------------S---------- | 160 |
KCNH4 | ------------------------------>-<-------------------A---------- | 161 |
KCNH5 | ------------------------------>-<------------------KFA--------- | 150 |
KCNH6 | ------------------------------>-<--------------TGRGKYR---TISQIP | 182 |
KCNH7 | VHDIEGFGVHPKNIFRDRHASEDNGRNVKG>P<FNHIKSSLLGSTSDSNLNKYS---TINKIP | 333 |
KCNH8 | ------------------------------>-<-------------------A---------- | 156 |
CNGA1 | ------------------------------>-<------------------------------ | |
CNGA2 | ------------------------------>-<------------------------------ | |
CNGA3 | ------------------------------>-<------------------------------ | |
CNGA4 | ------------------------------>-<------------------------------ | |
CNGB1 | LKALSPAESPVVAWSDPTTPKDTDGQDRAA>S<TASTNSAIINDRLQELVKLFKERTEKV-KE | 584 |
CNGB3 | QKEMDPGKE------GPNSPQNK------P>P<AAPVINEYADAQLHNLVKRMRQRTALY-KK | 148 |
HCN1 | ------------------------------>-<------------------------------ | |
HCN2 | ------------------------------>-<------------------------------ | |
HCN3 | ------------------------------>-<------------------------------ | |
HCN4 | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A307P | c.919G>C | Putative Benign | SIFT: Polyphen: |