No paralogue variants have been mapped to residue 923 for KCNH2.
KCNH2 | --EQ-----PGEVSALGPGRAGAGPSSRGR>P<GG---P--WGESPSSGPSS-------PESS | 941 |
KCNH1 | LFQRF-----RQQKEARL-AAERGGRDLDD>L<DV---E--KGNVLTEHASA-------NHSL | 782 |
KCNH3 | LEEKE-----TDGEQG---P-TVSPAPADE>P<SS---P--LLSPGCTSSSSAAKLLSPRRTA | 774 |
KCNH4 | ITEAE-----SGAEPGGGPRPR-RPLLLPN>L<SP---A--RPR--GSLVSLLGEELPPFSAL | 772 |
KCNH5 | LFQKF-----KQQKELRNQGSTQGDPERNQ>L<QV---E--SRSLQNGASIT-------GTSV | 752 |
KCNH6 | --ELGPQFPSKGYSLLGPGSQNSMG----->-<AG---P--CAPG-HPDAAP-------PLSI | 788 |
KCNH7 | ------------NSTNDPEDSADTIRHYQS>S<KR---H--FEEKKSRSSSF-------ISSI | 941 |
KCNH8 | IVEDE-----EEEEEGEEEEAVSLSPICTR>G<SS---S--RNKKVGSNKAYLGLSLKQLASG | 759 |
CNGA1 | ARILA-----EYESMQQKLKQRLTKVEKFL>K<P-----LIDTEFSSIEGPG---------AE | 683 |
CNGA2 | GRLLA-----EYTGAQQKLKQRITVLETKM>K<Q-----NNEDDYLSDGMNS---------PE | 657 |
CNGA3 | ARLLA-----EYNATQMKMKQRLSQLESQV>K<G-----GG-DKPLADGEVPG-------DAT | 687 |
CNGA4 | ARLLA-----ELESSALKIAYRIERLEWQT>R<EW---PMPEDLAEADDEGE---------PE | 555 |
CNGB1 | AKGGK-----LAHLRARLKELAALEAAAKQ>Q<EL---V--EQAKSSQDVKGE-------EGS | 1167 |
CNGB3 | ---------------ARLLKLKREQAAQKK>E<NSEGGE--EEGKENEDKQKE-------NED | 725 |
HCN1 | DREMV-----QAIAPINYPQMTTLNSTSST>T<TP---T--SRMRTQSPPVYT-------ATS | 672 |
HCN2 | DREMV-----QQAELGQRVGLFPPPPPPPQ>V<TS---A--IATLQQAAAMSF-------CPQ | 741 |
HCN3 | DRDMA-----RGVRGRAPSTGAQLSGKPVL>W<EP---L--VHAPLQAAAVTS-------NVA | 621 |
HCN4 | DREMA-----HCAHRVQAAASATPTPTPVI>W<TP---L--IQAPLQAAAATT-------SVA | 792 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P923L | c.2768C>T | Putative Benign | SIFT: Polyphen: |