No paralogue variants have been mapped to residue 393 for KCNH2.
| KCNH2 | HNV-TEKVTQVL---SLGADVL-PEYKLQA>P<RIHRWTILHYSPFKA-VWDWLILLLVIYTA | 422 |
| KCNH1 | VHK-HSRLAEVL---QLGSDIL-PQYKQEA>P<KTPPHIILHYCVFKT-TWDWIILILTFYTA | 232 |
| KCNH3 | KG--KHKLNKGV---FGEKPNL-PEYKVAA>I<RKSPFILLHCGALRA-TWDGFILLATLYVA | 239 |
| KCNH4 | QG--GMKANNNV---FEPKPSV-PEYKVAS>V<GGSRCLLLHYSVSKA-IWDGLILLATFYVA | 241 |
| KCNH5 | VHK-HSRLAEVL---QLGSDIL-PQYKQEA>P<KTPPHIILHYCAFKT-TWDWVILILTFYTA | 229 |
| KCNH6 | QNV-TEKVTQVL---SLGADVL-PEYKLQA>P<RIHRWTILHYSPFKA-VWDWLILLLVIYTA | 271 |
| KCNH7 | HNV-TEKVTQVL---SLGADVL-PEYKLQT>P<RINKFTILHYSPFKA-VWDWLILLLVIYTA | 422 |
| KCNH8 | KN--KLKINNNV---FVDKPAF-PEYKVSD>A<KKSKFILLHFSTFKA-GWDWLILLATFYVA | 236 |
| CNGA1 | -----K-KKKD-KEKKKK--EEKSKDKKEE>E<KKEVVVIDPSGNTYY-NWLFCITLPVMYNW | 180 |
| CNGA2 | ---------------------KDGEDKGTK>K<KFELFVLDPAGDWYY-CWLFVIAMPVLYNW | 155 |
| CNGA3 | ADRGRS-AWPLAKCNTNTSNN-TEEE-KKT>K<KKDAIVVDPSSNLYY-RWLTAIALPVFYNW | 183 |
| CNGA4 | -----------------------SPPAPSK>A<RKLLPVLDPSGDYYY-WWLNTMVFPVMYNL | 49 |
| CNGB1 | VEE-EHYCDMLC----CKFKHR-PW----K>K<YQFPQSIDPLTNLMYVLWLFFVVMAWNWNC | 671 |
| CNGB3 | KPT-EHYYRLLW----FKVKKM-PLTEYLK>R<IKLPNSIDSYTDRLYLLWLLLVTLAYNWNC | 233 |
| HCN1 | PGV-NKF-SLRM---FGSQKAV-EKEQERV>K<TAGFWIIHPYSDFRF-YWDLIMLIMMVGNL | 157 |
| HCN2 | PGV-NKF-SLRM---FGSQKAV-EREQERV>K<SAGAWIIHPYSDFRF-YWDFTMLLFMVGNL | 226 |
| HCN3 | PTV-NKF-SLRV---FGSHKAV-EIEQERV>K<SAGAWIIHPYSDFRF-YWDLIMLLLMVGNL | 108 |
| HCN4 | PGV-NKF-SLRM---FGSQKAV-EREQERV>K<SAGFWIIHPYSDFRF-YWDLTMLLLMVGNL | 277 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.P393L | c.1178C>T | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Genotype- and mutation site-specific QT adaptation during exercise, recovery, and postural changes in children with long-QT syndrome. Circ Arrhythm Electrophysiol. 2011 4(6):867-73. 21956039 | ||