No paralogue variants have been mapped to residue 553 for KCNH2.
| KCNH2 | LLRLVRVARKLDRY-----SEYGAAV-LFL>L<MCTFALIAHWLACIWYAIGNMEQPHMDSR- | 582 |
| KCNH1 | LLRLGRVARKLDHY-----IEYGAAV-LVL>L<VCVFGLAAHWMACIWYSIGDYEIFDEDTKT | 412 |
| KCNH3 | LLRLLRLLPRLDRY-----SQYSAVV-LTL>L<MAVFALLAHWVACVWFYIGQREIESSESEL | 393 |
| KCNH4 | LLRLLRLLQKLERY-----SQCSAVV-LTL>L<MSVFALLAHWMACIWYVIGRREMEANDPLL | 395 |
| KCNH5 | LLRLGRVARKLDHY-----LEYGAAV-LVL>L<VCVFGLVAHWLACIWYSIGDYEVIDEVTNT | 382 |
| KCNH6 | LLRLVRVARKLDRY-----SEYGAAV-LFL>L<MCTFALIAHWLACIWYAIGNVERPYLEHK- | 433 |
| KCNH7 | LLRLVRVARKLDRY-----SEYGAAV-LML>L<MCIFALIAHWLACIWYAIGNVERPYLTDK- | 584 |
| KCNH8 | LLRLLRLLQKLDRY-----SQHSTIV-LTL>L<MSMFALLAHWMACIWYVIGKMEREDNSLLK | 389 |
| CNGA1 | FSRMFEFFQRTETR-----TNYPNIFRISN>L<VMYIVIIIHWNACVFYSISKAIGFGND--- | 330 |
| CNGA2 | FARMFEFFDRTETR-----TNYPNIFRISN>L<VLYILVIIHWNACIYYAISKSIGFGVD--- | 305 |
| CNGA3 | FSRLFEFFDRTETR-----TNYPNMFRIGN>L<VLYILIIIHWNACIYFAISKFIGFGTD--- | 333 |
| CNGA4 | APRLFEAFDRTETR-----TAYPNAFRIAK>L<MLYIFVVIHWNSCLYFALSRYLGFGRD--- | 199 |
| CNGB1 | YMAFFEFNSRLESI-----LSKAYVYRVIR>T<TAYLLYSLHLNSCLYYWASAYQGLGST--- | 821 |
| CNGB3 | YTSFFEFNHHLESI-----MDKAYIYRVIR>T<TGYLLFILHINACVYYWASNYEGIGTT--- | 383 |
| HCN1 | LSRLIRYIHQWEEIFHMTYDLASAVVRIFN>L<IGMMLLLCHWDGCLQFLVPLLQDFPPD--- | 328 |
| HCN2 | LSRLIRYIHQWEEIFHMTYDLASAVMRICN>L<ISMMLLLCHWDGCLQFLVPMLQDFPRN--- | 397 |
| HCN3 | LSRLIRYIHQWEEIFHMTYDLASAVVRIFN>L<IGMMLLLCHWDGCLQFLVPMLQDFPPD--- | 281 |
| HCN4 | LSRLIRYIHQWEEIFHMTYDLASAVVRIVN>L<IGMMLLLCHWDGCLQFLVPMLQDFPDD--- | 448 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.L553V | c.1657C>G | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction. Eur J Hum Genet. 2016 24(8):1160-6. doi: 10.1038/ejhg.2015.257. 26669661 | ||