No paralogue variants have been mapped to residue 925 for KCNH2.
| KCNH2 | EQ-----PGEVSALGPGRAGAGPSSRGRPG>G<---P--WGESPSSGPSS-------PESSED | 943 |
| KCNH1 | QRF-----RQQKEARL-AAERGGRDLDDLD>V<---E--KGNVLTEHASA-------NHSLVK | 784 |
| KCNH3 | EKE-----TDGEQG---P-TVSPAPADEPS>S<---P--LLSPGCTSSSSAAKLLSPRRTAPR | 776 |
| KCNH4 | EAE-----SGAEPGGGPRPR-RPLLLPNLS>P<---A--RPR--GSLVSLLGEELPPFSALVS | 774 |
| KCNH5 | QKF-----KQQKELRNQGSTQGDPERNQLQ>V<---E--SRSLQNGASIT-------GTSVVT | 754 |
| KCNH6 | ELGPQFPSKGYSLLGPGSQNSMG------A>G<---P--CAPG-HPDAAP-------PLSISD | 790 |
| KCNH7 | ----------NSTNDPEDSADTIRHYQSSK>R<---H--FEEKKSRSSSF-------ISSIDD | 943 |
| KCNH8 | EDE-----EEEEEGEEEEAVSLSPICTRGS>S<---S--RNKKVGSNKAYLGLSLKQLASGT- | 760 |
| CNGA1 | ILA-----EYESMQQKLKQRLTKVEKFLKP>-<----LIDTEFSSIEGPG---------AESG | 685 |
| CNGA2 | LLA-----EYTGAQQKLKQRITVLETKMKQ>-<----NNEDDYLSDGMNS---------PELA | 659 |
| CNGA3 | LLA-----EYNATQMKMKQRLSQLESQVKG>-<----GG-DKPLADGEVPG-------DATKT | 689 |
| CNGA4 | LLA-----ELESSALKIAYRIERLEWQTRE>W<---PMPEDLAEADDEGE---------PEEG | 557 |
| CNGB1 | GGK-----LAHLRARLKELAALEAAAKQQE>L<---V--EQAKSSQDVKGE-------EGSAA | 1169 |
| CNGB3 | -------------ARLLKLKREQAAQKKEN>S<EGGE--EEGKENEDKQKE-------NEDKQ | 727 |
| HCN1 | EMV-----QAIAPINYPQMTTLNSTSSTTT>P<---T--SRMRTQSPPVYT-------ATSLS | 674 |
| HCN2 | EMV-----QQAELGQRVGLFPPPPPPPQVT>S<---A--IATLQQAAAMSF-------CPQVA | 743 |
| HCN3 | DMA-----RGVRGRAPSTGAQLSGKPVLWE>P<---L--VHAPLQAAAVTS-------NVAIA | 623 |
| HCN4 | EMA-----HCAHRVQAAASATPTPTPVIWT>P<---L--IQAPLQAAAATT-------SVAIA | 794 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.G925R | c.2773G>A | Inherited Arrhythmia | LQTS | rs199473010 | SIFT: tolerated Polyphen: possibly damaging |
| Reports | Inherited Arrhythmia | LQTS | Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm. 2005 2(5):507-17. 15840476 | ||
| Putative Benign | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | ||||
| Putative Benign | Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome. Circ Cardiovasc Genet. 2012 5(5):519-28. doi: 10.1161/CIRCGENETICS.112.963785. 22949429 | ||||
| p.G925E | c.2774G>A | Putative Benign | SIFT: tolerated Polyphen: benign | ||
| p.Gly925Ala | c.2774G>C | Unknown | SIFT: Polyphen: | ||
| p.Gly925Val | c.2774G>T | Unknown | SIFT: Polyphen: | ||