No paralogue variants have been mapped to residue 920 for KCNH2.
| KCNH2 | KDT--EQ-----PGEVSALGPGRAGAGPSS>R<GRPGG---P--WGESPSSGPSS-------P | 938 |
| KCNH1 | VRRLFQRF-----RQQKEARL-AAERGGRD>L<DDLDV---E--KGNVLTEHASA-------N | 779 |
| KCNH3 | MSTLEEKE-----TDGEQG---P-TVSPAP>A<DEPSS---P--LLSPGCTSSSSAAKLLSPR | 771 |
| KCNH4 | LPSITEAE-----SGAEPGGGPRPR-RPLL>L<PNLSP---A--RPR--GSLVSLLGEELPPF | 769 |
| KCNH5 | VRKLFQKF-----KQQKELRNQGSTQGDPE>R<NQLQV---E--SRSLQNGASIT-------G | 749 |
| KCNH6 | SPH--ELGPQFPSKGYSLLGPGSQNSMG-->-<---AG---P--CAPG-HPDAAP-------P | 785 |
| KCNH7 | KE-------------NSTNDPEDSADTIRH>Y<QSSKR---H--FEEKKSRSSSF-------I | 938 |
| KCNH8 | LPSIVEDE-----EEEEEGEEEEAVSLSPI>C<TRGSS---S--RNKKVGSNKAYLGLSLKQL | 756 |
| CNGA1 | TRFARILA-----EYESMQQKLKQRLTKVE>K<FLKP-----LIDTEFSSIEGPG-------- | 681 |
| CNGA2 | TRFGRLLA-----EYTGAQQKLKQRITVLE>T<KMKQ-----NNEDDYLSDGMNS-------- | 655 |
| CNGA3 | TRFARLLA-----EYNATQMKMKQRLSQLE>S<QVKG-----GG-DKPLADGEVPG------- | 684 |
| CNGA4 | TKFARLLA-----ELESSALKIAYRIERLE>W<QTREW---PMPEDLAEADDEGE-------- | 553 |
| CNGB1 | GKGAKGGK-----LAHLRARLKELAALEAA>A<KQQEL---V--EQAKSSQDVKGE------- | 1164 |
| CNGB3 | L-----------------ARLLKLKREQAA>Q<KKENSEGGE--EEGKENEDKQKE------- | 722 |
| HCN1 | VKHDREMV-----QAIAPINYPQMTTLNST>S<STTTP---T--SRMRTQSPPVYT------- | 669 |
| HCN2 | VKYDREMV-----QQAELGQRVGLFPPPPP>P<PQVTS---A--IATLQQAAAMSF------- | 738 |
| HCN3 | VQHDRDMA-----RGVRGRAPSTGAQLSGK>P<VLWEP---L--VHAPLQAAAVTS------- | 618 |
| HCN4 | VQHDREMA-----HCAHRVQAAASATPTPT>P<VIWTP---L--IQAPLQAAAATT------- | 789 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R920Q | c.2759G>A | Inherited Arrhythmia | LQTS | rs199473670 | 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.R920W | c.2758C>T | Inherited Arrhythmia | LQTS | rs199473438 | 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.Arg920Gly | c.2758C>G | Unknown | SIFT: Polyphen: | ||