No paralogue variants have been mapped to residue 1026 for KCNH2.
KCNH2 | ------RQYQELPRCPAPTP-SLLN----I>P<L-SSPGRRPRGDV-ESRLDALQRQLNRLET | 1054 |
KCNH1 | ---------KSEDWNKVSKA-ESME----T>L<P-E------RTKA-S-----GEATLKKTDS | 879 |
KCNH3 | ------PKFSFRVGQSGPE--CSSSPSPGP>E<S-G----LLTVPH-GPSEARNTDTLDKLRQ | 883 |
KCNH4 | ------PSFRFSRRPELPRP-RSQA----P>P<T-GTRP-SPELAS-EAEEVK--EKVCRLNQ | 885 |
KCNH5 | ------HEEKKEDWNNVTKA-ESMG----L>L<S-EDPKSSDSENS-V-----TKNPLRKTDS | 863 |
KCNH6 | ------QGHASYILEAPASN-DLAL----V>P<I-ASETTSPGPRL-P------QGFLPPAQT | 898 |
KCNH7 | ------SALQRAAWGISET----------->-<----ESDLTYGEV-EQRLDLLQEQLNRLES | 1047 |
KCNH8 | ------QTFDFGSERIRSEP-RISP----->P<LGDPEIGAAVLFI-KAEETK--QQINKLNS | 872 |
CNGA1 | -----------------T------------>-<------------------------------ | 690 |
CNGA2 | -----------------P------------>-<------------------------------ | 664 |
CNGA3 | -----------------Q------------>-<------------------------------ | 694 |
CNGA4 | ------GRASQEGPPGPE------------>-<------------------------------ | 575 |
CNGB1 | ------PRTPPEPP---------G------>S<P-PSSPPPAS-------------------- | 1204 |
CNGB3 | ------GREPEEKPLDRPECTA-S------>P<I-AVEEEPHS-------------------- | 769 |
HCN1 | -------VQQSQPPQTQPQQPS-PQPQTPG>-<--S--STPKNEVH-KSTQALHNTNLTREVR | 784 |
HCN2 | --------ASPRAPR-----TS-------->-<-----PYGGLPAAPLAGPALPARRLSRASR | 818 |
HCN3 | ----ARTLHASLSRAGRSQ-VSLLG--PP->-<-------P----------GGGGRRLGPRGR | 710 |
HCN4 | SPGPPRTFPSAPPRASGSH-GSLLL--PPA>S<S-P--PPPQVPQR-RGTPPLTPGRLTQDLK | 1084 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P1026L | c.3077C>T | Putative Benign | rs41307271 | SIFT: tolerated Polyphen: probably damaging | |
p.P1026S | c.3076C>T | Putative Benign | rs75377064 | SIFT: tolerated Polyphen: probably damaging |