No paralogue variants have been mapped to residue 1057 for KCNH2.
KCNH2 | SSPGRRPRGDV-ESRLDALQRQLNRLETRL>S<ADMATVLQ--------------LLQRQMTL | 1073 |
KCNH1 | E------RTKA-S-----GEATLKKTDSCD>S<GITKSDLR--------------LDNVGEAR | 898 |
KCNH3 | G----LLTVPH-GPSEARNTDTLDKLRQAV>T<ELSEQVLQ--------------MREGLQSL | 902 |
KCNH4 | GTRP-SPELAS-EAEEVK--EKVCRLNQEI>S<RLNQEVSQ--------------LSRELRHI | 904 |
KCNH5 | EDPKSSDSENS-V-----TKNPLRKTDSCD>S<GITKSDLR--------------LDKAGEAR | 882 |
KCNH6 | ASETTSPGPRL-P------QGFLPPAQTPS>Y<GDLDDCSP--------------KHRNSSPR | 917 |
KCNH7 | --ESDLTYGEV-EQRLDLLQEQLNRLESQM>T<TDIQTILQ--------------LLQKQTTV | 1066 |
KCNH8 | DPEIGAAVLFI-KAEETK--QQINKLNSEV>T<TLTQEVSQ--------------LGKDMRNV | 891 |
CNGA1 | ------------------------------>-<------------------------------ | |
CNGA2 | ------------------------------>-<------------------------------ | |
CNGA3 | ------------------------------>-<------------------------------ | |
CNGA4 | ------------------------------>-<------------------------------ | |
CNGB1 | PSSPPPAS---------------------->-<------------------------------ | 1204 |
CNGB3 | AVEEEPHS---------------------->-<------------------------------ | 769 |
HCN1 | S--STPKNEVH-KSTQALHNTNLTREVRPL>S<ASQPSLPHEVSTLISRPHPTVG----ESLA | 813 |
HCN2 | ---PYGGLPAAPLAGPALPARRLSRASRPL>S<ASQPSLPHGAPGPAASTRPAS--------- | 842 |
HCN3 | -----P----------GGGGRRLGPRGRPL>S<ASQPSLPQRATGDGSPGRKGS--------- | 734 |
HCN4 | P--PPPQVPQR-RGTPPLTPGRLTQDLKLI>S<ASQPALPQDGAQTLRRASPHSSGESMAAFP | 1117 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S1057N | c.3170G>A | Putative Benign | SIFT: Polyphen: |