No paralogue variants have been mapped to residue 400 for KCNH2.
| KCNH2 | VTQVL---SLGADVL-PEYKLQAPRIHRWT>I<LHYSPFKA-VWDWLILLLVIYTAVFTPYSA | 429 |
| KCNH1 | LAEVL---QLGSDIL-PQYKQEAPKTPPHI>I<LHYCVFKT-TWDWIILILTFYTAILVPYNV | 239 |
| KCNH3 | LNKGV---FGEKPNL-PEYKVAAIRKSPFI>L<LHCGALRA-TWDGFILLATLYVAVTVPYSV | 246 |
| KCNH4 | ANNNV---FEPKPSV-PEYKVASVGGSRCL>L<LHYSVSKA-IWDGLILLATFYVAVTVPYNV | 248 |
| KCNH5 | LAEVL---QLGSDIL-PQYKQEAPKTPPHI>I<LHYCAFKT-TWDWVILILTFYTAIMVPYNV | 236 |
| KCNH6 | VTQVL---SLGADVL-PEYKLQAPRIHRWT>I<LHYSPFKA-VWDWLILLLVIYTAVFTPYSA | 278 |
| KCNH7 | VTQVL---SLGADVL-PEYKLQTPRINKFT>I<LHYSPFKA-VWDWLILLLVIYTAIFTPYSA | 429 |
| KCNH8 | INNNV---FVDKPAF-PEYKVSDAKKSKFI>L<LHFSTFKA-GWDWLILLATFYVAVTVPYNV | 243 |
| CNGA1 | KKKD-KEKKKK--EEKSKDKKEEEKKEVVV>I<DPSGNTYY-NWLFCITLPVMYNWTMVIARA | 187 |
| CNGA2 | --------------KDGEDKGTKKKFELFV>L<DPAGDWYY-CWLFVIAMPVLYNWCLLVARA | 162 |
| CNGA3 | AWPLAKCNTNTSNN-TEEE-KKTKKKDAIV>V<DPSSNLYY-RWLTAIALPVFYNWYLLICRA | 190 |
| CNGA4 | ----------------SPPAPSKARKLLPV>L<DPSGDYYY-WWLNTMVFPVMYNLIILVCRA | 56 |
| CNGB1 | CDMLC----CKFKHR-PW----KKYQFPQS>I<DPLTNLMYVLWLFFVVMAWNWNCWLIPVRW | 678 |
| CNGB3 | YRLLW----FKVKKM-PLTEYLKRIKLPNS>I<DSYTDRLYLLWLLLVTLAYNWNCCFIPLRL | 240 |
| HCN1 | -SLRM---FGSQKAV-EKEQERVKTAGFWI>I<HPYSDFRF-YWDLIMLIMMVGNLVIIPVGI | 164 |
| HCN2 | -SLRM---FGSQKAV-EREQERVKSAGAWI>I<HPYSDFRF-YWDFTMLLFMVGNLIIIPVGI | 233 |
| HCN3 | -SLRV---FGSHKAV-EIEQERVKSAGAWI>I<HPYSDFRF-YWDLIMLLLMVGNLIVLPVGI | 115 |
| HCN4 | -SLRM---FGSQKAV-EREQERVKSAGFWI>I<HPYSDFRF-YWDLTMLLLMVGNLIIIPVGI | 284 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.I400N | c.1199T>A | Inherited Arrhythmia | LQTS | rs199472891 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Screening for mutations and polymorphisms in the genes KCNH2 and KCNE2 encoding the cardiac HERG/MiRP1 ion channel: implications for acquired and congenital long Q-T syndrome. Clin Chem. 2001 47(8):1390-5. 11468227 | ||
| Inherited Arrhythmia | LQTS | Classification of the long-QT syndrome based on discriminant analysis of T-wave morphology. Med Biol Eng Comput. 2006 44(7):543-9. 16937190 | |||
| p.I400V | c.1198A>G | Putative Benign | rs377159124 | SIFT: tolerated Polyphen: benign | |