No paralogue variants have been mapped to residue 1032 for KCNH2.
| KCNH2 | QYQELPRCPAPTP-SLLN----IPL-SSPG>R<RPRGDV-ESRLDALQRQLNRLETRLSADMA | 1061 |
| KCNH1 | --KSEDWNKVSKA-ESME----TLP-E--->-<--RTKA-S-----GEATLKKTDSCDSGITK | 886 |
| KCNH3 | KFSFRVGQSGPE--CSSSPSPGPES-G--->-<LLTVPH-GPSEARNTDTLDKLRQAVTELSE | 890 |
| KCNH4 | SFRFSRRPELPRP-RSQA----PPT-GTRP>-<SPELAS-EAEEVK--EKVCRLNQEISRLNQ | 892 |
| KCNH5 | EEKKEDWNNVTKA-ESMG----LLS-EDPK>S<SDSENS-V-----TKNPLRKTDSCDSGITK | 870 |
| KCNH6 | GHASYILEAPASN-DLAL----VPI-ASET>T<SPGPRL-P------QGFLPPAQTPSYGDLD | 905 |
| KCNH7 | ALQRAAWGISET----------------ES>D<LTYGEV-EQRLDLLQEQLNRLESQMTTDIQ | 1054 |
| KCNH8 | TFDFGSERIRSEP-RISP-----PLGDPEI>G<AAVLFI-KAEETK--QQINKLNSEVTTLTQ | 879 |
| CNGA1 | ----------T------------------->-<------------------------------ | 690 |
| CNGA2 | ----------P------------------->-<------------------------------ | 664 |
| CNGA3 | ----------Q------------------->-<------------------------------ | 694 |
| CNGA4 | RASQEGPPGPE------------------->-<------------------------------ | 575 |
| CNGB1 | RTPPEPP---------G------SP-PSSP>P<PAS--------------------------- | 1204 |
| CNGB3 | REPEEKPLDRPECTA-S------PI-AVEE>E<PHS--------------------------- | 769 |
| HCN1 | VQQSQPPQTQPQQPS-PQPQTPG---S--S>T<PKNEVH-KSTQALHNTNLTREVRPLSASQP | 791 |
| HCN2 | -ASPRAPR-----TS--------------P>Y<GGLPAAPLAGPALPARRLSRASRPLSASQP | 825 |
| HCN3 | LHASLSRAGRSQ-VSLLG--PP-------->-<P----------GGGGRRLGPRGRPLSASQP | 717 |
| HCN4 | FPSAPPRASGSH-GSLLL--PPASS-P--P>P<PQVPQR-RGTPPLTPGRLTQDLKLISASQP | 1091 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R1032Q | c.3095G>A | Inherited Arrhythmia | LQTS | rs199473020 | SIFT: tolerated Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Long QT syndrome with compound mutations is associated with a more severe phenotype: a Japanese multicenter study. Heart Rhythm. 2010 7(10):1411-8. 20541041 | ||
| p.R1032W | c.3094C>T | Benign | rs373394254 | SIFT: tolerated Polyphen: probably damaging | |
| p.R1032L | c.3095G>T | Putative Benign | SIFT: Polyphen: | ||