No paralogue variants have been mapped to residue 1035 for KCNH2.
| KCNH2 | ELPRCPAPTP-SLLN----IPL-SSPGRRP>R<GDV-ESRLDALQRQLNRLETRLSADMATVL | 1064 |
| KCNH1 | SEDWNKVSKA-ESME----TLP-E------>R<TKA-S-----GEATLKKTDSCDSGITKSDL | 889 |
| KCNH3 | FRVGQSGPE--CSSSPSPGPES-G----LL>T<VPH-GPSEARNTDTLDKLRQAVTELSEQVL | 893 |
| KCNH4 | FSRRPELPRP-RSQA----PPT-GTRP-SP>E<LAS-EAEEVK--EKVCRLNQEISRLNQEVS | 895 |
| KCNH5 | KEDWNNVTKA-ESMG----LLS-EDPKSSD>S<ENS-V-----TKNPLRKTDSCDSGITKSDL | 873 |
| KCNH6 | SYILEAPASN-DLAL----VPI-ASETTSP>G<PRL-P------QGFLPPAQTPSYGDLDDCS | 908 |
| KCNH7 | RAAWGISET----------------ESDLT>Y<GEV-EQRLDLLQEQLNRLESQMTTDIQTIL | 1057 |
| KCNH8 | FGSERIRSEP-RISP-----PLGDPEIGAA>V<LFI-KAEETK--QQINKLNSEVTTLTQEVS | 882 |
| CNGA1 | -------T---------------------->-<------------------------------ | 690 |
| CNGA2 | -------P---------------------->-<------------------------------ | 664 |
| CNGA3 | -------Q---------------------->-<------------------------------ | 694 |
| CNGA4 | QEGPPGPE---------------------->-<------------------------------ | 575 |
| CNGB1 | PEPP---------G------SP-PSSPPPA>S<------------------------------ | 1204 |
| CNGB3 | EEKPLDRPECTA-S------PI-AVEEEPH>S<------------------------------ | 769 |
| HCN1 | SQPPQTQPQQPS-PQPQTPG---S--STPK>N<EVH-KSTQALHNTNLTREVRPLSASQPSLP | 794 |
| HCN2 | PRAPR-----TS--------------PYGG>L<PAAPLAGPALPARRLSRASRPLSASQPSLP | 828 |
| HCN3 | SLSRAGRSQ-VSLLG--PP---------P->-<--------GGGGRRLGPRGRPLSASQPSLP | 720 |
| HCN4 | APPRASGSH-GSLLL--PPASS-P--PPPQ>V<PQR-RGTPPLTPGRLTQDLKLISASQPALP | 1094 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R1035W | c.3103C>T | Putative Benign | rs199473543 | SIFT: tolerated Polyphen: probably damaging | |
| Reports | Putative Benign | Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome. Mayo Clin Proc. 2003 78(12):1479-87. 14661677 | |||
| Putative Benign | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | ||||
| p.R1035Q | c.3104G>A | Putative Benign | SIFT: Polyphen: | ||