No paralogue variants have been mapped to residue 1040 for KCNH2.
| KCNH2 | APTP-SLLN----IPL-SSPGRRPRGDV-E>S<RLDALQRQLNRLETRLSADMATVLQ----- | 1065 |
| KCNH1 | VSKA-ESME----TLP-E------RTKA-S>-<----GEATLKKTDSCDSGITKSDLR----- | 890 |
| KCNH3 | GPE--CSSSPSPGPES-G----LLTVPH-G>P<SEARNTDTLDKLRQAVTELSEQVLQ----- | 894 |
| KCNH4 | LPRP-RSQA----PPT-GTRP-SPELAS-E>A<EEVK--EKVCRLNQEISRLNQEVSQ----- | 896 |
| KCNH5 | VTKA-ESMG----LLS-EDPKSSDSENS-V>-<----TKNPLRKTDSCDSGITKSDLR----- | 874 |
| KCNH6 | PASN-DLAL----VPI-ASETTSPGPRL-P>-<-----QGFLPPAQTPSYGDLDDCSP----- | 909 |
| KCNH7 | SET----------------ESDLTYGEV-E>Q<RLDLLQEQLNRLESQMTTDIQTILQ----- | 1058 |
| KCNH8 | RSEP-RISP-----PLGDPEIGAAVLFI-K>A<EETK--QQINKLNSEVTTLTQEVSQ----- | 883 |
| CNGA1 | -T---------------------------->-<------------------------------ | 690 |
| CNGA2 | -P---------------------------->-<------------------------------ | 664 |
| CNGA3 | -Q---------------------------->-<------------------------------ | 694 |
| CNGA4 | PE---------------------------->-<------------------------------ | 575 |
| CNGB1 | -------G------SP-PSSPPPAS----->-<------------------------------ | 1204 |
| CNGB3 | RPECTA-S------PI-AVEEEPHS----->-<------------------------------ | 769 |
| HCN1 | QPQQPS-PQPQTPG---S--STPKNEVH-K>S<TQALHNTNLTREVRPLSASQPSLPHEVSTL | 800 |
| HCN2 | ----TS--------------PYGGLPAAPL>A<GPALPARRLSRASRPLSASQPSLPHGAPGP | 834 |
| HCN3 | RSQ-VSLLG--PP---------P------->-<--GGGGRRLGPRGRPLSASQPSLPQRATGD | 726 |
| HCN4 | GSH-GSLLL--PPASS-P--PPPQVPQR-R>G<TPPLTPGRLTQDLKLISASQPALPQDGAQT | 1100 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.S1040G | c.3118A>G | Other Cardiac Phenotype | rs199473024 | SIFT: tolerated Polyphen: benign | |
| Reports | Other Cardiac Phenotype | Prevalence of long-QT syndrome gene variants in sudden infant death syndrome. Circulation. 2007 115(3):361-7. 17210839 | |||
| p.Ser1040Asn | c.3119G>A | Unknown | SIFT: Polyphen: | ||