No paralogue variants have been mapped to residue 93 for KCNH2.
| KCNH2 | -----------------GAEE-R------->K<VE-IAFYRK-----------DGS------- | 104 |
| KCNH1 | -----------------NYEM-N------->S<FE-ILMYKK-----------NRT------- | 105 |
| KCNH3 | -----------------EHKE-F------->K<AE-LILYRK-----------SGL------- | 105 |
| KCNH4 | -----------------GHQE-H------->R<AE-ICFYRK-----------DGS------- | 105 |
| KCNH5 | -----------------NYES-N------->C<FE-VLLYKK-----------NRT------- | 103 |
| KCNH6 | -----------------GAEE-C------->K<VD-ILYYRK-----------DAS------- | 104 |
| KCNH7 | -----------------GSEE-R------->K<VE-VTYYHK-----------NGS------- | 104 |
| KCNH8 | -----------------EKTE-F------->K<GE-IMFYKK-----------NGS------- | 105 |
| CNGA1 | -----------------EDDD-SASTSEES>E<NEN-PHA-R-----------GSF------- | 66 |
| CNGA2 | -----------------AADDDTSSE---->-<----LQR-L-----------ADV------- | 56 |
| CNGA3 | -----------------SSEE-TSSVLQPG>I<AME-TRG-L-----------ADS------- | 60 |
| CNGA4 | ------------------------------>-<------------------------------ | |
| CNGB1 | -----------------AQDT-R------->P<GLRLLLWLEQNLERVLPQPPKSSEVWRDEP | 184 |
| CNGB3 | ------------------------------>-<------------------------------ | |
| HCN1 | PAAAEKRLGTPPGGGGAGAKE-H------->G<NS-VCFKVD--------------------- | 62 |
| HCN2 | PNGECGRGEPQCSPAGPEGPA-R------->G<PK-VSFSCR--------------------- | 128 |
| HCN3 | ------------------------------>-<----APPPA--------------------- | 30 |
| HCN4 | ------------------------------>-<-----ASCE--------------------- | 180 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.K93R | c.278A>G | Inherited Arrhythmia | SIFT: Polyphen: | ||
| Reports | Inherited Arrhythmia | LQTS | Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction. Eur J Hum Genet. 2016 24(8):1160-6. doi: 10.1038/ejhg.2015.257. 26669661 | ||