No paralogue variants have been mapped to residue 457 for KCNH2.
| KCNH2 | YSAAFLLKETEEGPPATECGYACQPLAVVD>L<IVDIMFIVDI-LINFRTTYVN-ANEEVVSH | 485 |
| KCNH1 | YNVSFKTRQN------------NVAWLVVD>S<IVDVIFLVDI-VLNFHTTFVG-PAGEVISD | 283 |
| KCNH3 | YSVCVSTARE--------PSAARGPPSVCD>L<AVEVLFILDI-VLNFRTTFVS-KSGQVVFA | 294 |
| KCNH4 | YNVCFSGDDD--------TPITSRHTLVSD>I<AVEMLFILDI-ILNFRTTYVS-QSGQVISA | 296 |
| KCNH5 | YNVSFKTKQN------------NIAWLVLD>S<VVDVIFLVDI-VLNFHTTFVG-PGGEVISD | 280 |
| KCNH6 | YSAAFLLSDQDE-SRRGACSYTCSPLTVVD>L<IVDIMFVVDI-VINFRTTYVN-TNDEVVSH | 333 |
| KCNH7 | YSAAFLLNDREE-QKRRECGYSCSPLNVVD>L<IVDIMFIIDI-LINFRTTYVN-QNEEVVSD | 484 |
| KCNH8 | YNVCFIGNDD--------LS-TTRSTTVSD>I<AVEILFIIDI-ILNFRTTYVS-KSGQVIFE | 290 |
| CNGA1 | ARACFDELQS----------DYLEYWLILD>Y<VSDIVYLIDM-FVRTRTGYLE--QGLLVKE | 232 |
| CNGA2 | ARACFSDLQK----------GYYLVWLVLD>Y<VSDVVYIADL-FIRLRTGFLE--QGLLVKD | 207 |
| CNGA3 | CRACFDELQS----------EYLMLWLVLD>Y<SADVLYVLDV-LVRARTGFLE--QGLMVSD | 235 |
| CNGA4 | CRACFPDLQH----------GYLVAWLVLD>Y<TSDLLYLLDM-VVRFHTGFLE--QGILVVD | 101 |
| CNGB1 | VRWAFPYQTP----------DNIHHWLLMD>Y<LCDLIYFLDITVFQTRLQFVR--GGDIITD | 724 |
| CNGB3 | LRLVFPYQTA----------DNIHYWLIAD>I<ICDIIYLYDMLFIQPRLQFVR--GGDIIVD | 286 |
| HCN1 | VGITFFTEQT------------TTPWIIFN>V<ASDTVFLLDL-IMNFRTGTVNEDSSEIILD | 209 |
| HCN2 | VGITFFKDET------------TAPWIVFN>V<VSDTFFLMDL-VLNFRTGIVIEDNTEIILD | 278 |
| HCN3 | VGITFFKEEN------------SPPWIVFN>V<LSDTFFLLDL-VLNFRTGIVVEEGAEILLA | 160 |
| HCN4 | VGITFFKDEN------------TTPWIVFN>V<VSDTFFLIDL-VLNFRTGIVVEDNTEIILD | 329 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.L457P | c.1370T>C | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Common Genotypes of Long QT Syndrome in China and the Role of ECG Prediction. Cardiology. 2016 133(2):73-8. doi: 10.1159/000440608. 26496715 | ||