No paralogue variants have been mapped to residue 1060 for KCNH2.
| KCNH2 | GRRPRGDV-ESRLDALQRQLNRLETRLSAD>M<ATVLQ--------------LLQRQMTLVPP | 1076 |
| KCNH1 | ----RTKA-S-----GEATLKKTDSCDSGI>T<KSDLR--------------LDNVGEARSPQ | 901 |
| KCNH3 | --LLTVPH-GPSEARNTDTLDKLRQAVTEL>S<EQVLQ--------------MREGLQSLRQA | 905 |
| KCNH4 | P-SPELAS-EAEEVK--EKVCRLNQEISRL>N<QEVSQ--------------LSRELRHIMGL | 907 |
| KCNH5 | KSSDSENS-V-----TKNPLRKTDSCDSGI>T<KSDLR--------------LDKAGEARSPL | 885 |
| KCNH6 | TTSPGPRL-P------QGFLPPAQTPSYGD>L<DDCSP--------------KHRNSSPRMP- | 919 |
| KCNH7 | SDLTYGEV-EQRLDLLQEQLNRLESQMTTD>I<QTILQ--------------LLQKQTTVVPP | 1069 |
| KCNH8 | IGAAVLFI-KAEETK--QQINKLNSEVTTL>T<QEVSQ--------------LGKDMRNVIQL | 894 |
| CNGA1 | ------------------------------>-<------------------------------ | |
| CNGA2 | ------------------------------>-<------------------------------ | |
| CNGA3 | ------------------------------>-<------------------------------ | |
| CNGA4 | ------------------------------>-<------------------------------ | |
| CNGB1 | PPPAS------------------------->-<------------------------------ | 1204 |
| CNGB3 | EEPHS------------------------->-<------------------------------ | 769 |
| HCN1 | STPKNEVH-KSTQALHNTNLTREVRPLSAS>Q<PSLPHEVSTLISRPHPTVG----ESLASIP | 816 |
| HCN2 | PYGGLPAAPLAGPALPARRLSRASRPLSAS>Q<PSLPHGAPGPAASTRPAS------------ | 842 |
| HCN3 | --P----------GGGGRRLGPRGRPLSAS>Q<PSLPQRATGDGSPGRKGS------------ | 734 |
| HCN4 | PPPQVPQR-RGTPPLTPGRLTQDLKLISAS>Q<PALPQDGAQTLRRASPHSSGESMAAFPLFP | 1120 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.M1060V | c.3178A>G | Putative Benign | SIFT: Polyphen: |