No paralogue variants have been mapped to residue 890 for KCNH2.
| KCNH2 | SP---GSTELE--------GGFSRQRKRKL>S<FRRRTDKDT--EQ-----PGEVSALGPGRA | 913 |
| KCNH1 | SD---VKREEE--------ERMKRKNEAPL>I<LPPDHPVRRLFQRF-----RQQKEARL-AA | 754 |
| KCNH3 | DT-----SSLS------------G------>-<D--NTLMSTLEEKE-----TDGEQG---P- | 739 |
| KCNH4 | SR-----FSRS--------PRLSQPRSESL>G<SSSDKTLPSITEAE-----SGAEPGGGPRP | 740 |
| KCNH5 | SD---VKKEEE--------ERLRQKNEVTL>S<IPVDHPVRKLFQKF-----KQQKELRNQGS | 724 |
| KCNH6 | -----HSSPRQ--------APGSQDHQGFF>L<SDNQSGSPH--ELGPQFPSKGYSLLGPGSQ | 767 |
| KCNH7 | LLRSQSMNDSE--------GDNCKLRRRKL>S<FESEGEKE-------------NSTNDPEDS | 913 |
| KCNH8 | SR-----LSNK--------SMVSQSEPKGN>G<N-INKRLPSIVEDE-----EEEEEGEEEEA | 724 |
| CNGA1 | SD---PKDLEE--------K---VTRME-->G<SVDLLQTRFARILA-----EYESMQQKLKQ | 657 |
| CNGA2 | -M---EVDVQE--------K---LGQLE-->T<NMETLYTRFGRLLA-----EYTGAQQKLKQ | 631 |
| CNGA3 | AD---PKDLEE--------K---VEQLG-->S<SLDTLQTRFARLLA-----EYNATQMKMKQ | 660 |
| CNGA4 | IA---LQEATE--------SR--LRGLD-->Q<QLDDLQTKFARLLA-----ELESSALKIAY | 527 |
| CNGB1 | -K-----SVLILPPRAGTPKL--FNAA--L>A<MTGKMGGKGAKGGK-----LAHLRARLKEL | 1139 |
| CNGB3 | -D-----LALLFPPKEETPKL--FKTL--L>G<GTGKASL-----------------ARLLKL | 694 |
| HCN1 | Q------KDLNT-------GVFNN-Q---E>N<EILKQIVKHDREMV-----QAIAPINYPQM | 644 |
| HCN2 | Q------HDLNS-------GVFNN-Q---E>N<AIIQEIVKYDREMV-----QQAELGQRVGL | 713 |
| HCN3 | S------EPSPG-----------S-S---G>G<IMEQHLVQHDRDMA-----RGVRGRAPSTG | 593 |
| HCN4 | Q------HDLNS-------GVFNY-Q---E>N<EIIQQIVQHDREMA-----HCAHRVQAAAS | 764 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.S890C | c.2669C>G | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Genetic analysis, in silico prediction, and family segregation in long QT syndrome. Eur J Hum Genet. 2015 23(1):79-85. doi: 10.1038/ejhg.2014.54. 24667783 | ||