No paralogue variants have been mapped to residue 1110 for KCNH2.
KCNH2 | PGPTSTSPLL-----PVSPLP-TLTLDSLS>Q<VSQFMACEELPPGAPELPQ----------- | 1129 |
KCNH1 | LQATVLEVRH-----ELKEDIKALNAKMTN>I<EKQLSEILRILTSRRS-------------- | 963 |
KCNH3 | --GEGPCPASTSGLLQPLCVDTGASSYCLQ>P<PAGSVLSGTWPHPRPGPPPL--MAPWPWG- | 978 |
KCNH4 | WTPDPPCPQL-----RP-----PCLSPCAS>R<PPPSLQDTTLAEVH-CPASV--GTMETG-- | 968 |
KCNH5 | LQTTLQEVKH-----ELKEDIQLLSCRMTA>L<EKQVAEILKILSEKSVPQ------------ | 949 |
KCNH6 | TLAPSSEQEQ-----PEGLWP-PLASPLHP>L<EVQGLICG---------------------- | 960 |
KCNH7 | TSQPEASIKT-----DRSFSPSSQCPEFLD>L<EKSKLKSKESLSSGVHLNTA--SEDNLTSL | 1143 |
KCNH8 | WSAHQPCLHL-----QTGGAAYTQAQLCSS>N<ITSDIWSVDPSSVGSSPQRT--GAHEQNPA | 981 |
CNGA1 | ------------------------------>-<------------------------------ | |
CNGA2 | ------------------------------>-<------------------------------ | |
CNGA3 | ------------------------------>-<------------------------------ | |
CNGA4 | ------------------------------>-<------------------------------ | |
CNGB1 | RPEGEEEGPA-----EPEEHSVRIC----->-<------------------------------ | 1226 |
CNGB3 | R----TVLPR-----GTSRQSLIIS----->-<------------------------------ | 787 |
HCN1 | --G---RST--------------VP-QRVT>L<FRQMSSGAIP------PNRGVPPAPP---- | 861 |
HCN2 | --S---ST-------------PRLG-P--->-<-------------TP-AARAAAPSPD---- | 862 |
HCN3 | --G---SE-------------R-LP-PSGL>L<-------AKP------PRTAQPPRPP---- | 758 |
HCN4 | --S---GGLG-----PPGRPYGAIPGQHVT>L<PRKTSSGSLPPPLSLFGARATSSGGP---- | 1178 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Q1110P | c.3329A>C | Putative Benign | SIFT: Polyphen: |