No paralogue variants have been mapped to residue 1105 for KCNH2.
KCNH2 | ----GPGPTSTSPLL-----PVSPLP-TLT>L<DSLSQVSQFMACEELPPGAPELPQ------ | 1129 |
KCNH1 | IPEQTLQATVLEVRH-----ELKEDIKALN>A<KMTNIEKQLSEILRILTSRRS--------- | 963 |
KCNH3 | AS-----GEGPCPASTSGLLQPLCVDTGAS>S<YCLQPPAGSVLSGTWPHPRPGPPPL--MAP | 974 |
KCNH4 | PAGSAWTPDPPCPQL-----RP-----PCL>S<PCASRPPPSLQDTTLAEVH-CPASV--GTM | 965 |
KCNH5 | IPEQALQTTLQEVKH-----ELKEDIQLLS>C<RMTALEKQVAEILKILSEKSVPQ------- | 949 |
KCNH6 | ----KTLAPSSEQEQ-----PEGLWP-PLA>S<PLHPLEVQGLICG----------------- | 960 |
KCNH7 | IQLMRTSQPEASIKT-----DRSFSPSSQC>P<EFLDLEKSKLKSKESLSSGVHLNTA--SED | 1138 |
KCNH8 | QTRTSWSAHQPCLHL-----QTGGAAYTQA>Q<LCSSNITSDIWSVDPSSVGSSPQRT--GAH | 976 |
CNGA1 | ------------------------------>-<------------------------------ | |
CNGA2 | ------------------------------>-<------------------------------ | |
CNGA3 | ------------------------------>-<------------------------------ | |
CNGA4 | ------------------------------>-<------------------------------ | |
CNGB1 | ---LGRPEGEEEGPA-----EPEEHSVRIC>-<------------------------------ | 1226 |
CNGB3 | ---VRR----TVLPR-----GTSRQSLIIS>-<------------------------------ | 787 |
HCN1 | -AG----G---RST--------------VP>-<QRVTLFRQMSSGAIP------PNRGVPPAP | 860 |
HCN2 | -------S---ST-------------PRLG>-<P-----------------TP-AARAAAPSP | 861 |
HCN3 | -------G---SE-------------R-LP>-<PSGLL-------AKP------PRTAQPPRP | 757 |
HCN4 | -------S---GGLG-----PPGRPYGAIP>G<QHVTLPRKTSSGSLPPPLSLFGARATSSGG | 1177 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L1105S | c.3314T>C | Putative Benign | SIFT: Polyphen: |