No paralogue variants have been mapped to residue 1103 for KCNH2.
KCNH2 | ------GPGPTSTSPLL-----PVSPLP-T>L<TLDSLSQVSQFMACEELPPGAPELPQ---- | 1129 |
KCNH1 | YPIPEQTLQATVLEVRH-----ELKEDIKA>L<NAKMTNIEKQLSEILRILTSRRS------- | 963 |
KCNH3 | PRAS-----GEGPCPASTSGLLQPLCVDTG>A<SSYCLQPPAGSVLSGTWPHPRPGPPPL--M | 972 |
KCNH4 | GHPAGSAWTPDPPCPQL-----RP-----P>C<LSPCASRPPPSLQDTTLAEVH-CPASV--G | 963 |
KCNH5 | YPIPEQALQTTLQEVKH-----ELKEDIQL>L<SCRMTALEKQVAEILKILSEKSVPQ----- | 949 |
KCNH6 | ------KTLAPSSEQEQ-----PEGLWP-P>L<ASPLHPLEVQGLICG--------------- | 960 |
KCNH7 | PIIQLMRTSQPEASIKT-----DRSFSPSS>Q<CPEFLDLEKSKLKSKESLSSGVHLNTA--S | 1136 |
KCNH8 | SLQTRTSWSAHQPCLHL-----QTGGAAYT>Q<AQLCSSNITSDIWSVDPSSVGSSPQRT--G | 974 |
CNGA1 | ------------------------------>-<------------------------------ | |
CNGA2 | ------------------------------>-<------------------------------ | |
CNGA3 | ------------------------------>-<------------------------------ | |
CNGA4 | ------------------------------>-<------------------------------ | |
CNGB1 | -----LGRPEGEEEGPA-----EPEEHSVR>I<C----------------------------- | 1226 |
CNGB3 | -----VRR----TVLPR-----GTSRQSLI>I<S----------------------------- | 787 |
HCN1 | ---AG----G---RST-------------->V<P-QRVTLFRQMSSGAIP------PNRGVPP | 858 |
HCN2 | ---------S---ST-------------PR>L<G-P-----------------TP-AARAAAP | 859 |
HCN3 | ---------G---SE-------------R->L<P-PSGLL-------AKP------PRTAQPP | 755 |
HCN4 | ---------S---GGLG-----PPGRPYGA>I<PGQHVTLPRKTSSGSLPPPLSLFGARATSS | 1175 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L1103P | c.3308T>C | Putative Benign | SIFT: Polyphen: |