No paralogue variants have been mapped to residue 892 for KCNH2.
| KCNH2 | ---GSTELE--------GGFSRQRKRKLSF>R<RRTDKDT--EQ-----PGEVSALGPGRAGA | 915 |
| KCNH1 | ---VKREEE--------ERMKRKNEAPLIL>P<PDHPVRRLFQRF-----RQQKEARL-AAER | 756 |
| KCNH3 | -----SSLS------------G-------D>-<-NTLMSTLEEKE-----TDGEQG---P-TV | 741 |
| KCNH4 | -----FSRS--------PRLSQPRSESLGS>S<SDKTLPSITEAE-----SGAEPGGGPRPR- | 741 |
| KCNH5 | ---VKKEEE--------ERLRQKNEVTLSI>P<VDHPVRKLFQKF-----KQQKELRNQGSTQ | 726 |
| KCNH6 | ---HSSPRQ--------APGSQDHQGFFLS>D<NQSGSPH--ELGPQFPSKGYSLLGPGSQNS | 769 |
| KCNH7 | RSQSMNDSE--------GDNCKLRRRKLSF>E<SEGEKE-------------NSTNDPEDSAD | 915 |
| KCNH8 | -----LSNK--------SMVSQSEPKGNGN>-<INKRLPSIVEDE-----EEEEEGEEEEAVS | 726 |
| CNGA1 | ---PKDLEE--------K---VTRME--GS>V<DLLQTRFARILA-----EYESMQQKLKQRL | 659 |
| CNGA2 | ---EVDVQE--------K---LGQLE--TN>M<ETLYTRFGRLLA-----EYTGAQQKLKQRI | 633 |
| CNGA3 | ---PKDLEE--------K---VEQLG--SS>L<DTLQTRFARLLA-----EYNATQMKMKQRL | 662 |
| CNGA4 | ---LQEATE--------SR--LRGLD--QQ>L<DDLQTKFARLLA-----ELESSALKIAYRI | 529 |
| CNGB1 | -----SVLILPPRAGTPKL--FNAA--LAM>T<GKMGGKGAKGGK-----LAHLRARLKELAA | 1141 |
| CNGB3 | -----LALLFPPKEETPKL--FKTL--LGG>T<GKASL-----------------ARLLKLKR | 696 |
| HCN1 | -----KDLNT-------GVFNN-Q---ENE>I<LKQIVKHDREMV-----QAIAPINYPQMTT | 646 |
| HCN2 | -----HDLNS-------GVFNN-Q---ENA>I<IQEIVKYDREMV-----QQAELGQRVGLFP | 715 |
| HCN3 | -----EPSPG-----------S-S---GGI>M<EQHLVQHDRDMA-----RGVRGRAPSTGAQ | 595 |
| HCN4 | -----HDLNS-------GVFNY-Q---ENE>I<IQQIVQHDREMA-----HCAHRVQAAASAT | 766 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R892C | c.2674C>T | Other Cardiac Phenotype | rs201627778 | SIFT: tolerated Polyphen: possibly damaging | |
| Reports | Other Cardiac Phenotype | Post-mortem genetic analysis in juvenile cases of sudden cardiac death. Forensic Sci Int. 2014 245C:30-37. doi: 10.1016/j.forsciint.2014.10.004. 25447171 | |||
| p.R892H | c.2675G>A | Putative Benign | SIFT: Polyphen: | ||
| p.R892G | c.2674C>G | Putative Benign | SIFT: Polyphen: | ||