No paralogue variants have been mapped to residue 1037 for KCNH2.
| KCNH2 | PRCPAPTP-SLLN----IPL-SSPGRRPRG>D<V-ESRLDALQRQLNRLETRLSADMATVLQ- | 1065 |
| KCNH1 | DWNKVSKA-ESME----TLP-E------RT>K<A-S-----GEATLKKTDSCDSGITKSDLR- | 890 |
| KCNH3 | VGQSGPE--CSSSPSPGPES-G----LLTV>P<H-GPSEARNTDTLDKLRQAVTELSEQVLQ- | 894 |
| KCNH4 | RRPELPRP-RSQA----PPT-GTRP-SPEL>A<S-EAEEVK--EKVCRLNQEISRLNQEVSQ- | 896 |
| KCNH5 | DWNNVTKA-ESMG----LLS-EDPKSSDSE>N<S-V-----TKNPLRKTDSCDSGITKSDLR- | 874 |
| KCNH6 | ILEAPASN-DLAL----VPI-ASETTSPGP>R<L-P------QGFLPPAQTPSYGDLDDCSP- | 909 |
| KCNH7 | AWGISET----------------ESDLTYG>E<V-EQRLDLLQEQLNRLESQMTTDIQTILQ- | 1058 |
| KCNH8 | SERIRSEP-RISP-----PLGDPEIGAAVL>F<I-KAEETK--QQINKLNSEVTTLTQEVSQ- | 883 |
| CNGA1 | -----T------------------------>-<------------------------------ | 690 |
| CNGA2 | -----P------------------------>-<------------------------------ | 664 |
| CNGA3 | -----Q------------------------>-<------------------------------ | 694 |
| CNGA4 | GPPGPE------------------------>-<------------------------------ | 575 |
| CNGB1 | PP---------G------SP-PSSPPPAS->-<------------------------------ | 1204 |
| CNGB3 | KPLDRPECTA-S------PI-AVEEEPHS->-<------------------------------ | 769 |
| HCN1 | PPQTQPQQPS-PQPQTPG---S--STPKNE>V<H-KSTQALHNTNLTREVRPLSASQPSLPHE | 796 |
| HCN2 | APR-----TS--------------PYGGLP>A<APLAGPALPARRLSRASRPLSASQPSLPHG | 830 |
| HCN3 | SRAGRSQ-VSLLG--PP---------P--->-<------GGGGRRLGPRGRPLSASQPSLPQR | 722 |
| HCN4 | PRASGSH-GSLLL--PPASS-P--PPPQVP>Q<R-RGTPPLTPGRLTQDLKLISASQPALPQD | 1096 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.D1037N | c.3109G>A | Putative Benign | rs199473023 | SIFT: tolerated Polyphen: possibly damaging | |
| Reports | Putative Benign | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | |||