No paralogue variants have been mapped to residue 567 for KCNH2.
| KCNH2 | -----SEYGAAV-LFLLMCTFALIAHWLAC>I<WYAIGNMEQPHMDSR----IGWLHNLGDQI | 593 |
| KCNH1 | -----IEYGAAV-LVLLVCVFGLAAHWMAC>I<WYSIGDYEIFDEDTKTIRNNSWLYQLAMDI | 426 |
| KCNH3 | -----SQYSAVV-LTLLMAVFALLAHWVAC>V<WFYIGQREIESSESELPE-IGWLQELARRL | 406 |
| KCNH4 | -----SQCSAVV-LTLLMSVFALLAHWMAC>I<WYVIGRREMEANDPLLWD-IGWLHELGKRL | 408 |
| KCNH5 | -----LEYGAAV-LVLLVCVFGLVAHWLAC>I<WYSIGDYEVIDEVTNTIQIDSWLYQLALSI | 396 |
| KCNH6 | -----SEYGAAV-LFLLMCTFALIAHWLAC>I<WYAIGNVERPYLEHK----IGWLDSLGVQL | 444 |
| KCNH7 | -----SEYGAAV-LMLLMCIFALIAHWLAC>I<WYAIGNVERPYLTDK----IGWLDSLGQQI | 595 |
| KCNH8 | -----SQHSTIV-LTLLMSMFALLAHWMAC>I<WYVIGKMEREDNSLLKWE-VGWLHELGKRL | 402 |
| CNGA1 | -----TNYPNIFRISNLVMYIVIIIHWNAC>V<FYSISKAIGFGND-------TWVYPD---I | 337 |
| CNGA2 | -----TNYPNIFRISNLVLYILVIIHWNAC>I<YYAISKSIGFGVD-------TWVYPN---I | 312 |
| CNGA3 | -----TNYPNMFRIGNLVLYILIIIHWNAC>I<YFAISKFIGFGTD-------SWVYPN---I | 340 |
| CNGA4 | -----TAYPNAFRIAKLMLYIFVVIHWNSC>L<YFALSRYLGFGRD-------AWVYPD---P | 206 |
| CNGB1 | -----LSKAYVYRVIRTTAYLLYSLHLNSC>L<YYWASAYQGLGST-------HWVYD----- | 826 |
| CNGB3 | -----MDKAYIYRVIRTTGYLLFILHINAC>V<YYWASNYEGIGTT-------RWVYD----- | 388 |
| HCN1 | FHMTYDLASAVVRIFNLIGMMLLLCHWDGC>L<QFLVPLLQDFPPD-------CWVS-----L | 333 |
| HCN2 | FHMTYDLASAVMRICNLISMMLLLCHWDGC>L<QFLVPMLQDFPRN-------CWVS-----I | 402 |
| HCN3 | FHMTYDLASAVVRIFNLIGMMLLLCHWDGC>L<QFLVPMLQDFPPD-------CWVS-----I | 286 |
| HCN4 | FHMTYDLASAVVRIVNLIGMMLLLCHWDGC>L<QFLVPMLQDFPDD-------CWVS-----I | 453 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.I567T | c.1700T>C | Inherited Arrhythmia | LQTS | rs199473519 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | The genetic basis of long QT and short QT syndromes: a mutation update. Hum Mutat. 2009 30(11):1486-511. 19862833 | ||