No paralogue variants have been mapped to residue 1043 for KCNH2.
KCNH2 | P-SLLN----IPL-SSPGRRPRGDV-ESRL>D<ALQRQLNRLETRLSADMATVLQ-------- | 1065 |
KCNH1 | A-ESME----TLP-E------RTKA-S--->-<-GEATLKKTDSCDSGITKSDLR-------- | 890 |
KCNH3 | --CSSSPSPGPES-G----LLTVPH-GPSE>A<RNTDTLDKLRQAVTELSEQVLQ-------- | 894 |
KCNH4 | P-RSQA----PPT-GTRP-SPELAS-EAEE>V<K--EKVCRLNQEISRLNQEVSQ-------- | 896 |
KCNH5 | A-ESMG----LLS-EDPKSSDSENS-V--->-<-TKNPLRKTDSCDSGITKSDLR-------- | 874 |
KCNH6 | N-DLAL----VPI-ASETTSPGPRL-P--->-<--QGFLPPAQTPSYGDLDDCSP-------- | 909 |
KCNH7 | ----------------ESDLTYGEV-EQRL>D<LLQEQLNRLESQMTTDIQTILQ-------- | 1058 |
KCNH8 | P-RISP-----PLGDPEIGAAVLFI-KAEE>T<K--QQINKLNSEVTTLTQEVSQ-------- | 883 |
CNGA1 | ------------------------------>-<------------------------------ | |
CNGA2 | ------------------------------>-<------------------------------ | |
CNGA3 | ------------------------------>-<------------------------------ | |
CNGA4 | ------------------------------>-<------------------------------ | |
CNGB1 | ----G------SP-PSSPPPAS-------->-<------------------------------ | 1204 |
CNGB3 | CTA-S------PI-AVEEEPHS-------->-<------------------------------ | 769 |
HCN1 | QPS-PQPQTPG---S--STPKNEVH-KSTQ>A<LHNTNLTREVRPLSASQPSLPHEVSTLISR | 803 |
HCN2 | -TS--------------PYGGLPAAPLAGP>A<LPARRLSRASRPLSASQPSLPHGAPGPAAS | 837 |
HCN3 | -VSLLG--PP---------P---------->G<GGGRRLGPRGRPLSASQPSLPQRATGDGSP | 729 |
HCN4 | -GSLLL--PPASS-P--PPPQVPQR-RGTP>P<LTPGRLTQDLKLISASQPALPQDGAQTLRR | 1103 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D1043G | c.3128A>G | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
Reports | Inherited Arrhythmia | LQTS | Vagal reflexes following an exercise stress test: a simple clinical tool for gene-specific risk stratification in the long QT syndrome. J Am Coll Cardiol. 2012 60(24):2515-24. doi: 10.1016/j.jacc.2012.08.1009. 23158531 |