No paralogue variants have been mapped to residue 1102 for KCNH2.
KCNH2 | -------GPGPTSTSPLL-----PVSPLP->T<LTLDSLSQVSQFMACEELPPGAPELPQ--- | 1129 |
KCNH1 | -YPIPEQTLQATVLEVRH-----ELKEDIK>A<LNAKMTNIEKQLSEILRILTSRRS------ | 963 |
KCNH3 | CPRAS-----GEGPCPASTSGLLQPLCVDT>G<ASSYCLQPPAGSVLSGTWPHPRPGPPPL-- | 971 |
KCNH4 | -GHPAGSAWTPDPPCPQL-----RP----->P<CLSPCASRPPPSLQDTTLAEVH-CPASV-- | 962 |
KCNH5 | -YPIPEQALQTTLQEVKH-----ELKEDIQ>L<LSCRMTALEKQVAEILKILSEKSVPQ---- | 949 |
KCNH6 | -------KTLAPSSEQEQ-----PEGLWP->P<LASPLHPLEVQGLICG-------------- | 960 |
KCNH7 | -PIIQLMRTSQPEASIKT-----DRSFSPS>S<QCPEFLDLEKSKLKSKESLSSGVHLNTA-- | 1135 |
KCNH8 | ESLQTRTSWSAHQPCLHL-----QTGGAAY>T<QAQLCSSNITSDIWSVDPSSVGSSPQRT-- | 973 |
CNGA1 | ------------------------------>-<------------------------------ | |
CNGA2 | ------------------------------>-<------------------------------ | |
CNGA3 | ------------------------------>-<------------------------------ | |
CNGA4 | ------------------------------>-<------------------------------ | |
CNGB1 | ------LGRPEGEEEGPA-----EPEEHSV>R<IC---------------------------- | 1226 |
CNGB3 | ------VRR----TVLPR-----GTSRQSL>I<IS---------------------------- | 787 |
HCN1 | ----AG----G---RST------------->-<VP-QRVTLFRQMSSGAIP------PNRGVP | 857 |
HCN2 | ----------S---ST-------------P>R<LG-P-----------------TP-AARAAA | 858 |
HCN3 | ----------G---SE-------------R>-<LP-PSGLL-------AKP------PRTAQP | 754 |
HCN4 | ----------S---GGLG-----PPGRPYG>A<IPGQHVTLPRKTSSGSLPPPLSLFGARATS | 1174 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T1102P | c.3304A>C | Putative Benign | SIFT: Polyphen: benign | ||
p.Thr1102Ile | c.3305C>T | Unknown | SIFT: Polyphen: |