No paralogue variants have been mapped to residue 413 for KCNH2.
| KCNH2 | L-PEYKLQAPRIHRWTILHYSPFKA-VWDW>L<ILLLVIYTAVFTPYSAAFLLKETEEGPPAT | 443 |
| KCNH1 | L-PQYKQEAPKTPPHIILHYCVFKT-TWDW>I<ILILTFYTAILVPYNVSFKTRQN------- | 246 |
| KCNH3 | L-PEYKVAAIRKSPFILLHCGALRA-TWDG>F<ILLATLYVAVTVPYSVCVSTARE------- | 253 |
| KCNH4 | V-PEYKVASVGGSRCLLLHYSVSKA-IWDG>L<ILLATFYVAVTVPYNVCFSGDDD------- | 255 |
| KCNH5 | L-PQYKQEAPKTPPHIILHYCAFKT-TWDW>V<ILILTFYTAIMVPYNVSFKTKQN------- | 243 |
| KCNH6 | L-PEYKLQAPRIHRWTILHYSPFKA-VWDW>L<ILLLVIYTAVFTPYSAAFLLSDQDE-SRRG | 291 |
| KCNH7 | L-PEYKLQTPRINKFTILHYSPFKA-VWDW>L<ILLLVIYTAIFTPYSAAFLLNDREE-QKRR | 442 |
| KCNH8 | F-PEYKVSDAKKSKFILLHFSTFKA-GWDW>L<ILLATFYVAVTVPYNVCFIGNDD------- | 250 |
| CNGA1 | EKSKDKKEEEKKEVVVIDPSGNTYY-NWLF>C<ITLPVMYNWTMVIARACFDELQS------- | 194 |
| CNGA2 | KDGEDKGTKKKFELFVLDPAGDWYY-CWLF>V<IAMPVLYNWCLLVARACFSDLQK------- | 169 |
| CNGA3 | -TEEE-KKTKKKDAIVVDPSSNLYY-RWLT>A<IALPVFYNWYLLICRACFDELQS------- | 197 |
| CNGA4 | --SPPAPSKARKLLPVLDPSGDYYY-WWLN>T<MVFPVMYNLIILVCRACFPDLQH------- | 63 |
| CNGB1 | R-PW----KKYQFPQSIDPLTNLMYVLWLF>F<VVMAWNWNCWLIPVRWAFPYQTP------- | 685 |
| CNGB3 | M-PLTEYLKRIKLPNSIDSYTDRLYLLWLL>L<VTLAYNWNCCFIPLRLVFPYQTA------- | 247 |
| HCN1 | V-EKEQERVKTAGFWIIHPYSDFRF-YWDL>I<MLIMMVGNLVIIPVGITFFTEQT------- | 171 |
| HCN2 | V-EREQERVKSAGAWIIHPYSDFRF-YWDF>T<MLLFMVGNLIIIPVGITFFKDET------- | 240 |
| HCN3 | V-EIEQERVKSAGAWIIHPYSDFRF-YWDL>I<MLLLMVGNLIVLPVGITFFKEEN------- | 122 |
| HCN4 | V-EREQERVKSAGFWIIHPYSDFRF-YWDL>T<MLLLMVGNLIIIPVGITFFKDEN------- | 291 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.L413P | c.1238T>C | Inherited Arrhythmia | LQTS | rs199472893 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population. Hum Mutat. 2002 20(6):475-6. 12442276 | ||
| Inherited Arrhythmia | LQTS | [The mechanistic rote of KCNH2 gene L413P and L559H mutations in long QT syndrome]. Zhonghua Nei Ke Za Zhi. 2007 46(10):838-41. 18218237 | |||
| p.Leu413Arg | c.1238T>G | Unknown | SIFT: Polyphen: | ||