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: |