No paralogue variants have been mapped to residue 1104 for KCNH2.
KCNH2 | -----GPGPTSTSPLL-----PVSPLP-TL>T<LDSLSQVSQFMACEELPPGAPELPQ----- | 1129 |
KCNH1 | PIPEQTLQATVLEVRH-----ELKEDIKAL>N<AKMTNIEKQLSEILRILTSRRS-------- | 963 |
KCNH3 | RAS-----GEGPCPASTSGLLQPLCVDTGA>S<SYCLQPPAGSVLSGTWPHPRPGPPPL--MA | 973 |
KCNH4 | HPAGSAWTPDPPCPQL-----RP-----PC>L<SPCASRPPPSLQDTTLAEVH-CPASV--GT | 964 |
KCNH5 | PIPEQALQTTLQEVKH-----ELKEDIQLL>S<CRMTALEKQVAEILKILSEKSVPQ------ | 949 |
KCNH6 | -----KTLAPSSEQEQ-----PEGLWP-PL>A<SPLHPLEVQGLICG---------------- | 960 |
KCNH7 | IIQLMRTSQPEASIKT-----DRSFSPSSQ>C<PEFLDLEKSKLKSKESLSSGVHLNTA--SE | 1137 |
KCNH8 | LQTRTSWSAHQPCLHL-----QTGGAAYTQ>A<QLCSSNITSDIWSVDPSSVGSSPQRT--GA | 975 |
CNGA1 | ------------------------------>-<------------------------------ | |
CNGA2 | ------------------------------>-<------------------------------ | |
CNGA3 | ------------------------------>-<------------------------------ | |
CNGA4 | ------------------------------>-<------------------------------ | |
CNGB1 | ----LGRPEGEEEGPA-----EPEEHSVRI>C<------------------------------ | 1226 |
CNGB3 | ----VRR----TVLPR-----GTSRQSLII>S<------------------------------ | 787 |
HCN1 | --AG----G---RST--------------V>P<-QRVTLFRQMSSGAIP------PNRGVPPA | 859 |
HCN2 | --------S---ST-------------PRL>G<-P-----------------TP-AARAAAPS | 860 |
HCN3 | --------G---SE-------------R-L>P<-PSGLL-------AKP------PRTAQPPR | 756 |
HCN4 | --------S---GGLG-----PPGRPYGAI>P<GQHVTLPRKTSSGSLPPPLSLFGARATSSG | 1176 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T1104I | c.3311C>T | Putative Benign | SIFT: Polyphen: |