No paralogue variants have been mapped to residue 1036 for KCNH2.
| KCNH2 | LPRCPAPTP-SLLN----IPL-SSPGRRPR>G<DV-ESRLDALQRQLNRLETRLSADMATVLQ | 1065 |
| KCNH1 | EDWNKVSKA-ESME----TLP-E------R>T<KA-S-----GEATLKKTDSCDSGITKSDLR | 890 |
| KCNH3 | RVGQSGPE--CSSSPSPGPES-G----LLT>V<PH-GPSEARNTDTLDKLRQAVTELSEQVLQ | 894 |
| KCNH4 | SRRPELPRP-RSQA----PPT-GTRP-SPE>L<AS-EAEEVK--EKVCRLNQEISRLNQEVSQ | 896 |
| KCNH5 | EDWNNVTKA-ESMG----LLS-EDPKSSDS>E<NS-V-----TKNPLRKTDSCDSGITKSDLR | 874 |
| KCNH6 | YILEAPASN-DLAL----VPI-ASETTSPG>P<RL-P------QGFLPPAQTPSYGDLDDCSP | 909 |
| KCNH7 | AAWGISET----------------ESDLTY>G<EV-EQRLDLLQEQLNRLESQMTTDIQTILQ | 1058 |
| KCNH8 | GSERIRSEP-RISP-----PLGDPEIGAAV>L<FI-KAEETK--QQINKLNSEVTTLTQEVSQ | 883 |
| CNGA1 | ------T----------------------->-<------------------------------ | 690 |
| CNGA2 | ------P----------------------->-<------------------------------ | 664 |
| CNGA3 | ------Q----------------------->-<------------------------------ | 694 |
| CNGA4 | EGPPGPE----------------------->-<------------------------------ | 575 |
| CNGB1 | EPP---------G------SP-PSSPPPAS>-<------------------------------ | 1204 |
| CNGB3 | EKPLDRPECTA-S------PI-AVEEEPHS>-<------------------------------ | 769 |
| HCN1 | QPPQTQPQQPS-PQPQTPG---S--STPKN>E<VH-KSTQALHNTNLTREVRPLSASQPSLPH | 795 |
| HCN2 | RAPR-----TS--------------PYGGL>P<AAPLAGPALPARRLSRASRPLSASQPSLPH | 829 |
| HCN3 | LSRAGRSQ-VSLLG--PP---------P-->-<-------GGGGRRLGPRGRPLSASQPSLPQ | 721 |
| HCN4 | PPRASGSH-GSLLL--PPASS-P--PPPQV>P<QR-RGTPPLTPGRLTQDLKLISASQPALPQ | 1095 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.G1036D | c.3107G>A | Inherited Arrhythmia | LQTS | rs199473022 | SIFT: tolerated Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm. 2005 2(5):507-17. 15840476 | ||
| Other Cardiac Phenotype | Cellular properties of C-terminal KCNH2 long QT syndrome mutations: description and divergence from clinical phenotypes. Heart Rhythm. 2008 5(8):1159-67. 18675227 | ||||
| Inherited Arrhythmia | LQTS | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | |||
| Inherited Arrhythmia | LQTS | Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome. Circ Cardiovasc Genet. 2012 5(5):519-28. doi: 10.1161/CIRCGENETICS.112.963785. 22949429 | |||
| 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 | |||