No paralogue variants have been mapped to residue 1059 for KCNH2.
KCNH2 | PGRRPRGDV-ESRLDALQRQLNRLETRLSA>D<MATVLQ--------------LLQRQMTLVP | 1075 |
KCNH1 | -----RTKA-S-----GEATLKKTDSCDSG>I<TKSDLR--------------LDNVGEARSP | 900 |
KCNH3 | ---LLTVPH-GPSEARNTDTLDKLRQAVTE>L<SEQVLQ--------------MREGLQSLRQ | 904 |
KCNH4 | RP-SPELAS-EAEEVK--EKVCRLNQEISR>L<NQEVSQ--------------LSRELRHIMG | 906 |
KCNH5 | PKSSDSENS-V-----TKNPLRKTDSCDSG>I<TKSDLR--------------LDKAGEARSP | 884 |
KCNH6 | ETTSPGPRL-P------QGFLPPAQTPSYG>D<LDDCSP--------------KHRNSSPRMP | 919 |
KCNH7 | ESDLTYGEV-EQRLDLLQEQLNRLESQMTT>D<IQTILQ--------------LLQKQTTVVP | 1068 |
KCNH8 | EIGAAVLFI-KAEETK--QQINKLNSEVTT>L<TQEVSQ--------------LGKDMRNVIQ | 893 |
CNGA1 | ------------------------------>-<------------------------------ | |
CNGA2 | ------------------------------>-<------------------------------ | |
CNGA3 | ------------------------------>-<------------------------------ | |
CNGA4 | ------------------------------>-<------------------------------ | |
CNGB1 | SPPPAS------------------------>-<------------------------------ | 1204 |
CNGB3 | EEEPHS------------------------>-<------------------------------ | 769 |
HCN1 | -STPKNEVH-KSTQALHNTNLTREVRPLSA>S<QPSLPHEVSTLISRPHPTVG----ESLASI | 815 |
HCN2 | -PYGGLPAAPLAGPALPARRLSRASRPLSA>S<QPSLPHGAPGPAASTRPAS----------- | 842 |
HCN3 | ---P----------GGGGRRLGPRGRPLSA>S<QPSLPQRATGDGSPGRKGS----------- | 734 |
HCN4 | -PPPQVPQR-RGTPPLTPGRLTQDLKLISA>S<QPALPQDGAQTLRRASPHSSGESMAAFPLF | 1119 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D1059E | c.3177C>G | Putative Benign | SIFT: Polyphen: |