No paralogue variants have been mapped to residue 411 for KCNH2.
| KCNH2 | DVL-PEYKLQAPRIHRWTILHYSPFKA-VW>D<WLILLLVIYTAVFTPYSAAFLLKETEEGPP | 441 |
| KCNH1 | DIL-PQYKQEAPKTPPHIILHYCVFKT-TW>D<WIILILTFYTAILVPYNVSFKTRQN----- | 246 |
| KCNH3 | PNL-PEYKVAAIRKSPFILLHCGALRA-TW>D<GFILLATLYVAVTVPYSVCVSTARE----- | 253 |
| KCNH4 | PSV-PEYKVASVGGSRCLLLHYSVSKA-IW>D<GLILLATFYVAVTVPYNVCFSGDDD----- | 255 |
| KCNH5 | DIL-PQYKQEAPKTPPHIILHYCAFKT-TW>D<WVILILTFYTAIMVPYNVSFKTKQN----- | 243 |
| KCNH6 | DVL-PEYKLQAPRIHRWTILHYSPFKA-VW>D<WLILLLVIYTAVFTPYSAAFLLSDQDE-SR | 289 |
| KCNH7 | DVL-PEYKLQTPRINKFTILHYSPFKA-VW>D<WLILLLVIYTAIFTPYSAAFLLNDREE-QK | 440 |
| KCNH8 | PAF-PEYKVSDAKKSKFILLHFSTFKA-GW>D<WLILLATFYVAVTVPYNVCFIGNDD----- | 250 |
| CNGA1 | -EEKSKDKKEEEKKEVVVIDPSGNTYY-NW>L<FCITLPVMYNWTMVIARACFDELQS----- | 194 |
| CNGA2 | --KDGEDKGTKKKFELFVLDPAGDWYY-CW>L<FVIAMPVLYNWCLLVARACFSDLQK----- | 169 |
| CNGA3 | NN-TEEE-KKTKKKDAIVVDPSSNLYY-RW>L<TAIALPVFYNWYLLICRACFDELQS----- | 197 |
| CNGA4 | ----SPPAPSKARKLLPVLDPSGDYYY-WW>L<NTMVFPVMYNLIILVCRACFPDLQH----- | 63 |
| CNGB1 | KHR-PW----KKYQFPQSIDPLTNLMYVLW>L<FFVVMAWNWNCWLIPVRWAFPYQTP----- | 685 |
| CNGB3 | KKM-PLTEYLKRIKLPNSIDSYTDRLYLLW>L<LLVTLAYNWNCCFIPLRLVFPYQTA----- | 247 |
| HCN1 | KAV-EKEQERVKTAGFWIIHPYSDFRF-YW>D<LIMLIMMVGNLVIIPVGITFFTEQT----- | 171 |
| HCN2 | KAV-EREQERVKSAGAWIIHPYSDFRF-YW>D<FTMLLFMVGNLIIIPVGITFFKDET----- | 240 |
| HCN3 | KAV-EIEQERVKSAGAWIIHPYSDFRF-YW>D<LIMLLLMVGNLIVLPVGITFFKEEN----- | 122 |
| HCN4 | KAV-EREQERVKSAGFWIIHPYSDFRF-YW>D<LTMLLLMVGNLIIIPVGITFFKDEN----- | 291 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.D411Y | c.1231G>T | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Compound Mutations Cause Increased Cardiac Events in Children with Long QT Syndrome: Can the Sequence Homology-Based Tools be Applied for Prediction of Phenotypic Severity? Pediatr Cardiol. 2016 37(5):962-70. doi: 10.1007/s00246-016-1378-7. 27041096 | ||