No paralogue variants have been mapped to residue 1027 for KCNH2.
KCNH2 | -----RQYQELPRCPAPTP-SLLN----IP>L<-SSPGRRPRGDV-ESRLDALQRQLNRLETR | 1055 |
KCNH1 | --------KSEDWNKVSKA-ESME----TL>P<-E------RTKA-S-----GEATLKKTDSC | 880 |
KCNH3 | -----PKFSFRVGQSGPE--CSSSPSPGPE>S<-G----LLTVPH-GPSEARNTDTLDKLRQA | 884 |
KCNH4 | -----PSFRFSRRPELPRP-RSQA----PP>T<-GTRP-SPELAS-EAEEVK--EKVCRLNQE | 886 |
KCNH5 | -----HEEKKEDWNNVTKA-ESMG----LL>S<-EDPKSSDSENS-V-----TKNPLRKTDSC | 864 |
KCNH6 | -----QGHASYILEAPASN-DLAL----VP>I<-ASETTSPGPRL-P------QGFLPPAQTP | 899 |
KCNH7 | -----SALQRAAWGISET------------>-<---ESDLTYGEV-EQRLDLLQEQLNRLESQ | 1048 |
KCNH8 | -----QTFDFGSERIRSEP-RISP-----P>L<GDPEIGAAVLFI-KAEETK--QQINKLNSE | 873 |
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-KSTQALHNTNLTREVRP | 785 |
HCN2 | -------ASPRAPR-----TS--------->-<----PYGGLPAAPLAGPALPARRLSRASRP | 819 |
HCN3 | ---ARTLHASLSRAGRSQ-VSLLG--PP-->-<------P----------GGGGRRLGPRGRP | 711 |
HCN4 | PGPPRTFPSAPPRASGSH-GSLLL--PPAS>S<-P--PPPQVPQR-RGTPPLTPGRLTQDLKL | 1085 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Leu1027Ile | c.3079C>A | Unknown | SIFT: Polyphen: |