No paralogue variants have been mapped to residue 1126 for KCNH2.
KCNH2 | VSPLP-TLTLDSLSQVSQFMACEELPPGAP>E<LPQ--------------------------- | 1129 |
KCNH1 | LKEDIKALNAKMTNIEKQLSEILRILTSRR>S<------------------------------ | 963 |
KCNH3 | PLCVDTGASSYCLQPPAGSVLSGTWPHPRP>G<PPPL--MAPWPWG-------PPASQSSP-- | 986 |
KCNH4 | P-----PCLSPCASRPPPSLQDTTLAEVH->C<PASV--GTMETG--------TALLDLRP-- | 976 |
KCNH5 | LKEDIQLLSCRMTALEKQVAEILKILSEKS>V<PQ---------------------------- | 949 |
KCNH6 | EGLWP-PLASPLHPLEVQGLICG------->-<------------------------------ | 960 |
KCNH7 | RSFSPSSQCPEFLDLEKSKLKSKESLSSGV>H<LNTA--SEDNLTSL---------------- | 1143 |
KCNH8 | TGGAAYTQAQLCSSNITSDIWSVDPSSVGS>S<PQRT--GAHEQNPADSELYHSPSLDYSPSH | 997 |
CNGA1 | ------------------------------>-<------------------------------ | |
CNGA2 | ------------------------------>-<------------------------------ | |
CNGA3 | ------------------------------>-<------------------------------ | |
CNGA4 | ------------------------------>-<------------------------------ | |
CNGB1 | PEEHSVRIC--------------------->-<------------------------------ | 1226 |
CNGB3 | TSRQSLIIS--------------------->-<------------------------------ | 787 |
HCN1 | -------VP-QRVTLFRQMSSGAIP----->-<PNRGVPPAPP-------------------- | 861 |
HCN2 | -----PRLG-P-----------------TP>-<AARAAAPSPD-------------------- | 862 |
HCN3 | -----R-LP-PSGLL-------AKP----->-<PRTAQPPRPP-------------------- | 758 |
HCN4 | PGRPYGAIPGQHVTLPRKTSSGSLPPPLSL>F<GARATSSGGP-------------------- | 1178 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E1126K | c.3376G>A | Putative Benign | SIFT: tolerated Polyphen: probably damaging |