No paralogue variants have been mapped to residue 1093 for KCNH2.
| KCNH2 | ----------------------GPGPTSTS>P<LL-----PVSPLP-TLTLDSLSQVSQFMAC | 1117 |
| KCNH1 | HSF-------------YPIPEQTLQATVLE>V<RH-----ELKEDIKALNAKMTNIEKQLSEI | 954 |
| KCNH3 | GP-------------CPRAS-----GEGPC>P<ASTSGLLQPLCVDTGASSYCLQPPAGSVLS | 958 |
| KCNH4 | ----------------GHPAGSAWTPDPPC>P<QL-----RP-----PCLSPCASRPPPSLQD | 950 |
| KCNH5 | HPF-------------YPIPEQALQTTLQE>V<KH-----ELKEDIQLLSCRMTALEKQVAEI | 938 |
| KCNH6 | ----------------------KTLAPSSE>Q<EQ-----PEGLWP-PLASPLHPLEVQGLIC | 959 |
| KCNH7 | YQR-------------PIIQLMRTSQPEAS>I<KT-----DRSFSPSSQCPEFLDLEKSKLKS | 1122 |
| KCNH8 | SRFCSLHSTSVCPSRESLQTRTSWSAHQPC>L<HL-----QTGGAAYTQAQLCSSNITSDIWS | 960 |
| CNGA1 | ------------------------------>-<------------------------------ | |
| CNGA2 | ------------------------------>-<------------------------------ | |
| CNGA3 | ------------------------------>-<------------------------------ | |
| CNGA4 | ------------------------------>-<------------------------------ | |
| CNGB1 | ---------------------LGRPEGEEE>G<PA-----EPEEHSVRIC------------- | 1226 |
| CNGB3 | ---------------------VRR----TV>L<PR-----GTSRQSLIIS------------- | 787 |
| HCN1 | LQ-----------------AG----G---R>S<T--------------VP-QRVTLFRQMSSG | 848 |
| HCN2 | -------------------------S---S>T<-------------PRLG-P----------- | 850 |
| HCN3 | -------------------------G---S>E<-------------R-LP-PSGLL------- | 745 |
| HCN4 | S------------------------S---G>G<LG-----PPGRPYGAIPGQHVTLPRKTSSG | 1159 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.P1093L | c.3278C>T | Inherited Arrhythmia | LQTS | rs199473545 | SIFT: tolerated Polyphen: benign |
| Reports | Inherited Arrhythmia | LQTS | Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085 | ||
| Inherited Arrhythmia | LQTS | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | |||
| Inherited Arrhythmia | LQTS | Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome. Circ Cardiovasc Genet. 2012 5(5):519-28. doi: 10.1161/CIRCGENETICS.112.963785. 22949429 | |||
| p.P1093R | c.3278C>G | Putative Benign | SIFT: Polyphen: | ||