No paralogue variants have been mapped to residue 1101 for KCNH2.
| KCNH2 | ---------GPGPTSTSPLL-----PVSPL>P<-TLTLDSLSQVSQFMACEELPPGAPELPQ- | 1129 |
| KCNH1 | ---YPIPEQTLQATVLEVRH-----ELKED>I<KALNAKMTNIEKQLSEILRILTSRRS---- | 963 |
| KCNH3 | --CPRAS-----GEGPCPASTSGLLQPLCV>D<TGASSYCLQPPAGSVLSGTWPHPRPGPPPL | 971 |
| KCNH4 | ---GHPAGSAWTPDPPCPQL-----RP--->-<-PCLSPCASRPPPSLQDTTLAEVH-CPASV | 962 |
| KCNH5 | ---YPIPEQALQTTLQEVKH-----ELKED>I<QLLSCRMTALEKQVAEILKILSEKSVPQ-- | 949 |
| KCNH6 | ---------KTLAPSSEQEQ-----PEGLW>P<-PLASPLHPLEVQGLICG------------ | 960 |
| KCNH7 | ---PIIQLMRTSQPEASIKT-----DRSFS>P<SSQCPEFLDLEKSKLKSKESLSSGVHLNTA | 1135 |
| KCNH8 | SRESLQTRTSWSAHQPCLHL-----QTGGA>A<YTQAQLCSSNITSDIWSVDPSSVGSSPQRT | 973 |
| CNGA1 | ------------------------------>-<------------------------------ | |
| CNGA2 | ------------------------------>-<------------------------------ | |
| CNGA3 | ------------------------------>-<------------------------------ | |
| CNGA4 | ------------------------------>-<------------------------------ | |
| CNGB1 | --------LGRPEGEEEGPA-----EPEEH>S<VRIC-------------------------- | 1226 |
| CNGB3 | --------VRR----TVLPR-----GTSRQ>S<LIIS-------------------------- | 787 |
| HCN1 | ------AG----G---RST----------->-<--VP-QRVTLFRQMSSGAIP------PNRG | 855 |
| HCN2 | ------------S---ST------------>-<PRLG-P-----------------TP-AARA | 856 |
| HCN3 | ------------G---SE------------>-<R-LP-PSGLL-------AKP------PRTA | 752 |
| HCN4 | ------------S---GGLG-----PPGRP>Y<GAIPGQHVTLPRKTSSGSLPPPLSLFGARA | 1172 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.P1101L | c.3302C>T | Inherited Arrhythmia | LQTS | rs199473041 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Development of a high resolution melting method for the detection of genetic variations in Long QT Syndrome. Clin Chim Acta. 2011 412(1-2):203-7. 20851114 | ||