No paralogue variants have been mapped to residue 1033 for KCNH2.
| KCNH2 | YQELPRCPAPTP-SLLN----IPL-SSPGR>R<PRGDV-ESRLDALQRQLNRLETRLSADMAT | 1062 |
| KCNH1 | -KSEDWNKVSKA-ESME----TLP-E---->-<-RTKA-S-----GEATLKKTDSCDSGITKS | 887 |
| KCNH3 | FSFRVGQSGPE--CSSSPSPGPES-G---->L<LTVPH-GPSEARNTDTLDKLRQAVTELSEQ | 891 |
| KCNH4 | FRFSRRPELPRP-RSQA----PPT-GTRP->S<PELAS-EAEEVK--EKVCRLNQEISRLNQE | 893 |
| KCNH5 | EKKEDWNNVTKA-ESMG----LLS-EDPKS>S<DSENS-V-----TKNPLRKTDSCDSGITKS | 871 |
| KCNH6 | HASYILEAPASN-DLAL----VPI-ASETT>S<PGPRL-P------QGFLPPAQTPSYGDLDD | 906 |
| KCNH7 | LQRAAWGISET----------------ESD>L<TYGEV-EQRLDLLQEQLNRLESQMTTDIQT | 1055 |
| KCNH8 | FDFGSERIRSEP-RISP-----PLGDPEIG>A<AVLFI-KAEETK--QQINKLNSEVTTLTQE | 880 |
| CNGA1 | ---------T-------------------->-<------------------------------ | 690 |
| CNGA2 | ---------P-------------------->-<------------------------------ | 664 |
| CNGA3 | ---------Q-------------------->-<------------------------------ | 694 |
| CNGA4 | ASQEGPPGPE-------------------->-<------------------------------ | 575 |
| CNGB1 | TPPEPP---------G------SP-PSSPP>P<AS---------------------------- | 1204 |
| CNGB3 | EPEEKPLDRPECTA-S------PI-AVEEE>P<HS---------------------------- | 769 |
| HCN1 | QQSQPPQTQPQQPS-PQPQTPG---S--ST>P<KNEVH-KSTQALHNTNLTREVRPLSASQPS | 792 |
| HCN2 | ASPRAPR-----TS--------------PY>G<GLPAAPLAGPALPARRLSRASRPLSASQPS | 826 |
| HCN3 | HASLSRAGRSQ-VSLLG--PP--------->P<----------GGGGRRLGPRGRPLSASQPS | 718 |
| HCN4 | PSAPPRASGSH-GSLLL--PPASS-P--PP>P<QVPQR-RGTPPLTPGRLTQDLKLISASQPA | 1092 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R1033W | c.3097C>T | Inherited Arrhythmia | LQTS | rs199473021 | 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 | ||
| Inherited Arrhythmia | LQTS | Genetic variants for long QT syndrome among infants and children from a statewide newborn hearing screening program cohort. J Pediatr. 2014 164(3):590-5.e1-3. doi: 10.1016/j.jpeds.2013.11.01 24388587 | |||
| Inherited Arrhythmia | LQTS | Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome. Nat Commun. 2014 5:5535. doi: 10.1038/ncomms6535. 25417810 | |||