No paralogue variants have been mapped to residue 965 for KCNH2.
| KCNH2 | ESSEDEGP---GRSSSPLRLVPFSSP-RPP>G<EPPGGEPLMEDC------------------ | 977 |
| KCNH1 | HSLVKASV---VTVRESPATPVSFQA-AST>S<GVPDHAKLQAPGS----------------- | 819 |
| KCNH3 | RTAPRPRL---GGRGRPGRAGALKAE-AGP>S<APPRALEG---------------------- | 806 |
| KCNH4 | SALVSSPS---LSPSLSPALAGQGHS-ASP>H<GPPRCSAAWKPPQ----------------- | 809 |
| KCNH5 | TSVVTVSQ---ITPIQTSLAYVKTSE-SLK>Q<NNRDAMELKPNGG----------------- | 789 |
| KCNH6 | LSISDASG---LWPELLQEMPPRHSP-QSP>Q<EDPDCWPLKLGSR----------------- | 825 |
| KCNH7 | SSIDDEQK---PLFSGIVDSSPGIGK-ASG>L<DFEETVPTSGRMH----------------- | 978 |
| KCNH8 | ASGT-VPF---HSPIRVSRSNSPKTK-QEI>D<PPNHNKRKEKNLK----------------- | 795 |
| CNGA1 | -AESGPID---S------------------>-<------------------------------ | 689 |
| CNGA2 | -PELAAAD---E------------------>-<------------------------------ | 663 |
| CNGA3 | DATKTEDK---Q------------------>-<------------------------------ | 693 |
| CNGA4 | -PEEGTSK---DE----------------->-<------------------------------ | 562 |
| CNGB1 | EGSAAPDQ-----------HTHPKEA---->-<------------------------------ | 1179 |
| CNGB3 | NEDKQKEN-----------EDKGKE----->-<------------------------------ | 736 |
| HCN1 | ATSLSHSNL-H--------S---------->-<------------------------------ | 680 |
| HCN2 | CPQVARPLVGP------------------->-<------------------------------ | 749 |
| HCN3 | NVAIALTHQRG--------P---------->-<------------------------------ | 630 |
| HCN4 | SVAIALTHHPRLPAAIFRPPPGSGLGNLGA>G<QTPRHLKRLQSLIPSALGSASPASSPSQVD | 850 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.G965R | c.2893G>A | Putative Benign | rs199473015 | SIFT: tolerated Polyphen: benign | |
| Reports | Putative Benign | Genetic polymorphisms in KCNQ1, HERG, KCNE1 and KCNE2 genes in the Chinese, Malay and Indian populations of Singapore. Br J Clin Pharmacol. 2006 61(3):301-8. 16487223 | |||