No paralogue variants have been mapped to residue 1123 for KCNH2.
KCNH2 | --PVSPLP-TLTLDSLSQVSQFMACEELPP>G<APELPQ------------------------ | 1129 |
KCNH1 | --ELKEDIKALNAKMTNIEKQLSEILRILT>S<RRS--------------------------- | 963 |
KCNH3 | LLQPLCVDTGASSYCLQPPAGSVLSGTWPH>P<RPGPPPL--MAPWPWG-------PPASQSS | 985 |
KCNH4 | --RP-----PCLSPCASRPPPSLQDTTLAE>V<H-CPASV--GTMETG--------TALLDLR | 975 |
KCNH5 | --ELKEDIQLLSCRMTALEKQVAEILKILS>E<KSVPQ------------------------- | 949 |
KCNH6 | --PEGLWP-PLASPLHPLEVQGLICG---->-<------------------------------ | 960 |
KCNH7 | --DRSFSPSSQCPEFLDLEKSKLKSKESLS>S<GVHLNTA--SEDNLTSL------------- | 1143 |
KCNH8 | --QTGGAAYTQAQLCSSNITSDIWSVDPSS>V<GSSPQRT--GAHEQNPADSELYHSPSLDYS | 994 |
CNGA1 | ------------------------------>-<------------------------------ | |
CNGA2 | ------------------------------>-<------------------------------ | |
CNGA3 | ------------------------------>-<------------------------------ | |
CNGA4 | ------------------------------>-<------------------------------ | |
CNGB1 | --EPEEHSVRIC------------------>-<------------------------------ | 1226 |
CNGB3 | --GTSRQSLIIS------------------>-<------------------------------ | 787 |
HCN1 | ----------VP-QRVTLFRQMSSGAIP-->-<---PNRGVPPAPP----------------- | 861 |
HCN2 | --------PRLG-P---------------->-<TP-AARAAAPSPD----------------- | 862 |
HCN3 | --------R-LP-PSGLL-------AKP-->-<---PRTAQPPRPP----------------- | 758 |
HCN4 | --PPGRPYGAIPGQHVTLPRKTSSGSLPPP>L<SLFGARATSSGGP----------------- | 1178 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G1123R | c.3367G>A | Putative Benign | SIFT: Polyphen: |