No paralogue variants have been mapped to residue 922 for KCNH2.
| KCNH2 | T--EQ-----PGEVSALGPGRAGAGPSSRG>R<PGG---P--WGESPSSGPSS-------PES | 940 |
| KCNH1 | RLFQRF-----RQQKEARL-AAERGGRDLD>D<LDV---E--KGNVLTEHASA-------NHS | 781 |
| KCNH3 | TLEEKE-----TDGEQG---P-TVSPAPAD>E<PSS---P--LLSPGCTSSSSAAKLLSPRRT | 773 |
| KCNH4 | SITEAE-----SGAEPGGGPRPR-RPLLLP>N<LSP---A--RPR--GSLVSLLGEELPPFSA | 771 |
| KCNH5 | KLFQKF-----KQQKELRNQGSTQGDPERN>Q<LQV---E--SRSLQNGASIT-------GTS | 751 |
| KCNH6 | H--ELGPQFPSKGYSLLGPGSQNSMG---->-<-AG---P--CAPG-HPDAAP-------PLS | 787 |
| KCNH7 | -------------NSTNDPEDSADTIRHYQ>S<SKR---H--FEEKKSRSSSF-------ISS | 940 |
| KCNH8 | SIVEDE-----EEEEEGEEEEAVSLSPICT>R<GSS---S--RNKKVGSNKAYLGLSLKQLAS | 758 |
| CNGA1 | FARILA-----EYESMQQKLKQRLTKVEKF>L<KP-----LIDTEFSSIEGPG---------A | 682 |
| CNGA2 | FGRLLA-----EYTGAQQKLKQRITVLETK>M<KQ-----NNEDDYLSDGMNS---------P | 656 |
| CNGA3 | FARLLA-----EYNATQMKMKQRLSQLESQ>V<KG-----GG-DKPLADGEVPG-------DA | 686 |
| CNGA4 | FARLLA-----ELESSALKIAYRIERLEWQ>T<REW---PMPEDLAEADDEGE---------P | 554 |
| CNGB1 | GAKGGK-----LAHLRARLKELAALEAAAK>Q<QEL---V--EQAKSSQDVKGE-------EG | 1166 |
| CNGB3 | ----------------ARLLKLKREQAAQK>K<ENSEGGE--EEGKENEDKQKE-------NE | 724 |
| HCN1 | HDREMV-----QAIAPINYPQMTTLNSTSS>T<TTP---T--SRMRTQSPPVYT-------AT | 671 |
| HCN2 | YDREMV-----QQAELGQRVGLFPPPPPPP>Q<VTS---A--IATLQQAAAMSF-------CP | 740 |
| HCN3 | HDRDMA-----RGVRGRAPSTGAQLSGKPV>L<WEP---L--VHAPLQAAAVTS-------NV | 620 |
| HCN4 | HDREMA-----HCAHRVQAAASATPTPTPV>I<WTP---L--IQAPLQAAAATT-------SV | 791 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R922Q | c.2765G>A | Inherited Arrhythmia | LQTS | rs199473439 | 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.R922W | c.2764C>T | Inherited Arrhythmia | LQTS | rs199473440 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation. 2000 102(10):1178-85. 10973849 | ||
| Inherited Arrhythmia | LQTS | Compound mutations: a common cause of severe long-QT syndrome. Circulation. 2004 109(15):1834-41. 15051636 | |||
| Inherited Arrhythmia | LQTS | Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism. Circulation. 2006 113(3):365-73. 16432067 | |||
| Inherited Arrhythmia | LQTS | An in vivo cardiac assay to determine the functional consequences of putative long QT syndrome mutations. Circ Res. 2013 112(5):826-30. doi: 10.1161/CIRCRESAHA.112.300664. 23303164 | |||