No paralogue variants have been mapped to residue 894 for KCNH2.
| KCNH2 | -GSTELE--------GGFSRQRKRKLSFRR>R<TDKDT--EQ-----PGEVSALGPGRAGAGP | 917 |
| KCNH1 | -VKREEE--------ERMKRKNEAPLILPP>D<HPVRRLFQRF-----RQQKEARL-AAERGG | 758 |
| KCNH3 | ---SSLS------------G-------D-->N<TLMSTLEEKE-----TDGEQG---P-TVSP | 743 |
| KCNH4 | ---FSRS--------PRLSQPRSESLGSSS>D<KTLPSITEAE-----SGAEPGGGPRPR-RP | 743 |
| KCNH5 | -VKKEEE--------ERLRQKNEVTLSIPV>D<HPVRKLFQKF-----KQQKELRNQGSTQGD | 728 |
| KCNH6 | -HSSPRQ--------APGSQDHQGFFLSDN>Q<SGSPH--ELGPQFPSKGYSLLGPGSQNSMG | 771 |
| KCNH7 | QSMNDSE--------GDNCKLRRRKLSFES>E<GEKE-------------NSTNDPEDSADTI | 917 |
| KCNH8 | ---LSNK--------SMVSQSEPKGNGN-I>N<KRLPSIVEDE-----EEEEEGEEEEAVSLS | 728 |
| CNGA1 | -PKDLEE--------K---VTRME--GSVD>L<LQTRFARILA-----EYESMQQKLKQRLTK | 661 |
| CNGA2 | -EVDVQE--------K---LGQLE--TNME>T<LYTRFGRLLA-----EYTGAQQKLKQRITV | 635 |
| CNGA3 | -PKDLEE--------K---VEQLG--SSLD>T<LQTRFARLLA-----EYNATQMKMKQRLSQ | 664 |
| CNGA4 | -LQEATE--------SR--LRGLD--QQLD>D<LQTKFARLLA-----ELESSALKIAYRIER | 531 |
| CNGB1 | ---SVLILPPRAGTPKL--FNAA--LAMTG>K<MGGKGAKGGK-----LAHLRARLKELAALE | 1143 |
| CNGB3 | ---LALLFPPKEETPKL--FKTL--LGGTG>K<ASL-----------------ARLLKLKREQ | 698 |
| HCN1 | ---KDLNT-------GVFNN-Q---ENEIL>K<QIVKHDREMV-----QAIAPINYPQMTTLN | 648 |
| HCN2 | ---HDLNS-------GVFNN-Q---ENAII>Q<EIVKYDREMV-----QQAELGQRVGLFPPP | 717 |
| HCN3 | ---EPSPG-----------S-S---GGIME>Q<HLVQHDRDMA-----RGVRGRAPSTGAQLS | 597 |
| HCN4 | ---HDLNS-------GVFNY-Q---ENEII>Q<QIVQHDREMA-----HCAHRVQAAASATPT | 768 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R894C | c.2680C>T | Inherited Arrhythmia | LQTS | rs199473433 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085 | ||
| p.R894L | c.2681G>T | Inherited Arrhythmia | LQTS | rs199473668 | SIFT: tolerated Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085 | ||
| p.R894H | c.2681G>A | Putative Benign | rs199473668 | SIFT: deleterious Polyphen: probably damaging | |