No paralogue variants have been mapped to residue 924 for KCNH2.
| KCNH2 | -EQ-----PGEVSALGPGRAGAGPSSRGRP>G<G---P--WGESPSSGPSS-------PESSE | 942 |
| KCNH1 | FQRF-----RQQKEARL-AAERGGRDLDDL>D<V---E--KGNVLTEHASA-------NHSLV | 783 |
| KCNH3 | EEKE-----TDGEQG---P-TVSPAPADEP>S<S---P--LLSPGCTSSSSAAKLLSPRRTAP | 775 |
| KCNH4 | TEAE-----SGAEPGGGPRPR-RPLLLPNL>S<P---A--RPR--GSLVSLLGEELPPFSALV | 773 |
| KCNH5 | FQKF-----KQQKELRNQGSTQGDPERNQL>Q<V---E--SRSLQNGASIT-------GTSVV | 753 |
| KCNH6 | -ELGPQFPSKGYSLLGPGSQNSMG------>A<G---P--CAPG-HPDAAP-------PLSIS | 789 |
| KCNH7 | -----------NSTNDPEDSADTIRHYQSS>K<R---H--FEEKKSRSSSF-------ISSID | 942 |
| KCNH8 | VEDE-----EEEEEGEEEEAVSLSPICTRG>S<S---S--RNKKVGSNKAYLGLSLKQLASGT | 760 |
| CNGA1 | RILA-----EYESMQQKLKQRLTKVEKFLK>P<-----LIDTEFSSIEGPG---------AES | 684 |
| CNGA2 | RLLA-----EYTGAQQKLKQRITVLETKMK>Q<-----NNEDDYLSDGMNS---------PEL | 658 |
| CNGA3 | RLLA-----EYNATQMKMKQRLSQLESQVK>G<-----GG-DKPLADGEVPG-------DATK | 688 |
| CNGA4 | RLLA-----ELESSALKIAYRIERLEWQTR>E<W---PMPEDLAEADDEGE---------PEE | 556 |
| CNGB1 | KGGK-----LAHLRARLKELAALEAAAKQQ>E<L---V--EQAKSSQDVKGE-------EGSA | 1168 |
| CNGB3 | --------------ARLLKLKREQAAQKKE>N<SEGGE--EEGKENEDKQKE-------NEDK | 726 |
| HCN1 | REMV-----QAIAPINYPQMTTLNSTSSTT>T<P---T--SRMRTQSPPVYT-------ATSL | 673 |
| HCN2 | REMV-----QQAELGQRVGLFPPPPPPPQV>T<S---A--IATLQQAAAMSF-------CPQV | 742 |
| HCN3 | RDMA-----RGVRGRAPSTGAQLSGKPVLW>E<P---L--VHAPLQAAAVTS-------NVAI | 622 |
| HCN4 | REMA-----HCAHRVQAAASATPTPTPVIW>T<P---L--IQAPLQAAAATT-------SVAI | 793 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.G924A | c.2771G>C | Inherited Arrhythmia | LQTS | rs199473009 | SIFT: tolerated Polyphen: possibly 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.G924E | c.2771G>A | Inherited Arrhythmia | LQTS | rs199473009 | 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.G924W | c.2770G>T | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records. JAMA. 2016 315(1):47-57. doi: 10.1001/jama.2015.17701. 26746457 | ||
| p.Gly924Arg | c.2770G>A | Unknown | SIFT: Polyphen: | ||