No paralogue variants have been mapped to residue 1004 for KCNH2.
| KCNH2 | S-------------------------FWGD>S<---R----G--------------------- | 1006 |
| KCNH1 | R-------------------------FKDA>C<---G-------------------------- | 845 |
| KCNH3 | D-------------------------GCGS>D<---Q-------------------------- | 836 |
| KCNH4 | D-------------------------SGST>A<---E----A--------------------- | 840 |
| KCNH5 | R-------------------------LKNN>M<---G----A--------------------- | 820 |
| KCNH6 | Q-------------------------LLQK>P<---M----P--------------------- | 856 |
| KCNH7 | P-------------------------QPED>S<---S----P--------------------- | 1009 |
| KCNH8 | D-------------------------GNSS>E<---E----S--------------------- | 826 |
| CNGA1 | ------------------------------>-<------------------------------ | |
| CNGA2 | ------------------------------>-<------------------------------ | |
| CNGA3 | ------------------------------>-<------------------------------ | |
| CNGA4 | ------------------------------>-<------------------------------ | |
| CNGB1 | --------------------------TDPP>A<------------------------------ | 1185 |
| CNGB3 | --------------------------EDKD>K<------------------------------ | 742 |
| HCN1 | -------------------------QQPQ->-<------------------QQ---------- | 737 |
| HCN2 | ---------------------------PG->-<------------------A-P--------- | 784 |
| HCN3 | -------------------------RLPA->-<------------------PP---------- | 675 |
| HCN4 | QLGQPPGELSLGLATGPLSTPETPPRQPEP>P<SLVAGASGGASPVGFTPRGGLSPPGHSPGP | 1034 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.S1004I | c.3011G>T | Putative Benign | SIFT: Polyphen: | ||
| p.S1004T | c.3011G>C | Putative Benign | SIFT: Polyphen: |