No paralogue variants have been mapped to residue 1062 for KCNH2.
KCNH2 | RPRGDV-ESRLDALQRQLNRLETRLSADMA>T<VLQ--------------LLQRQMTLVPPAY | 1078 |
KCNH1 | --RTKA-S-----GEATLKKTDSCDSGITK>S<DLR--------------LDNVGEARSPQDR | 903 |
KCNH3 | LLTVPH-GPSEARNTDTLDKLRQAVTELSE>Q<VLQ--------------MREGLQSLRQAVQ | 907 |
KCNH4 | SPELAS-EAEEVK--EKVCRLNQEISRLNQ>E<VSQ--------------LSRELRHIMGLLQ | 909 |
KCNH5 | SDSENS-V-----TKNPLRKTDSCDSGITK>S<DLR--------------LDKAGEARSPLEH | 887 |
KCNH6 | SPGPRL-P------QGFLPPAQTPSYGDLD>D<CSP--------------KHRNSSPRMP--H | 920 |
KCNH7 | LTYGEV-EQRLDLLQEQLNRLESQMTTDIQ>T<ILQ--------------LLQKQTTVVPPAY | 1071 |
KCNH8 | AAVLFI-KAEETK--QQINKLNSEVTTLTQ>E<VSQ--------------LGKDMRNVIQLLE | 896 |
CNGA1 | ------------------------------>-<------------------------------ | |
CNGA2 | ------------------------------>-<------------------------------ | |
CNGA3 | ------------------------------>-<------------------------------ | |
CNGA4 | ------------------------------>-<------------------------------ | |
CNGB1 | PAS--------------------------->-<------------------------------ | 1204 |
CNGB3 | PHS--------------------------->-<------------------------------ | 769 |
HCN1 | PKNEVH-KSTQALHNTNLTREVRPLSASQP>S<LPHEVSTLISRPHPTVG----ESLASIPQP | 818 |
HCN2 | GGLPAAPLAGPALPARRLSRASRPLSASQP>S<LPHGAPGPAASTRPAS-------------- | 842 |
HCN3 | P----------GGGGRRLGPRGRPLSASQP>S<LPQRATGDGSPGRKGS-------------- | 734 |
HCN4 | PQVPQR-RGTPPLTPGRLTQDLKLISASQP>A<LPQDGAQTLRRASPHSSGESMAAFPLFPRA | 1122 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T1062I | c.3185C>T | Putative Benign | SIFT: Polyphen: |