No paralogue variants have been mapped to residue 365 for KCNH2.
| KCNH2 | FVDLKGDPFLASP-T-SDREII-AP-KIK->E<--R-THNV-TEKVTQVL---SLGADVL-PE | 387 |
| KCNH1 | ----RLTRALTSS-R-GVLQQL-APS-VQK>G<--E-NVHK-HSRLAEVL---QLGSDIL-PQ | 197 |
| KCNH3 | ---KGFNANRRRS-R-AVLYHL-SGH-LQK>-<--Q-PKG--KHKLNKGV---FGEKPNL-PE | 204 |
| KCNH4 | --TWKFRSARRRS-R-TVLHRL-TGH-FGR>-<--R-GQG--GMKANNNV---FEPKPSV-PE | 206 |
| KCNH5 | ----RLTRALTNS-R-SVLQQL-TPM-NKT>-<--E-VVHK-HSRLAEVL---QLGSDIL-PQ | 194 |
| KCNH6 | FVEFNLEKHRSSS-T-TEIEII-APHKVV->E<--R-TQNV-TEKVTQVL---SLGADVL-PE | 236 |
| KCNH7 | FSEVKTEKKNSSPPS-SDKTII-AP-KVK->D<--R-THNV-TEKVTQVL---SLGADVL-PE | 387 |
| KCNH8 | --GTHFDSARRRS-R-AVLYHI-SGH-LQR>-<--R-EKN--KLKINNNV---FVDKPAF-PE | 201 |
| CNGA1 | KKK-KKKEKKSKS-D-DKNENKNDPE-KK->-<----------K-KKKD-KEKKKK--EEKSK | 145 |
| CNGA2 | FLE-RFRGPELQT-V-TTQEGDGKG--D-->-<--------------------------KDGE | 120 |
| CNGA3 | FPD-RFRGAELKE-V-SSQESNAQ-A-NVG>S<--QEPADRGRS-AWPLAKCNTNTSNN-TEE | 149 |
| CNGA4 | ---------KVKT-T-ES------------>-<----------------------------SP | 14 |
| CNGB1 | DVTSDEE-SPKPSPA-KKAPEP-APD-TKP>A<EAE-PVEE-EHYCDMLC----CKFKHR-PW | 639 |
| CNGB3 | DLSS-----PEASPQ-TAKPTA-VPP-VKE>S<--D-DKPT-EHYYRLLW----FKVKKM-PL | 197 |
| HCN1 | ----EDAEGPR-R-QYGFMQRQ--FT-SM->-<--L-QPGV-NKF-SLRM---FGSQKAV-EK | 122 |
| HCN2 | ----PAGEPRG-S-QASFMQRQ--FG-AL->-<--L-QPGV-NKF-SLRM---FGSQKAV-ER | 191 |
| HCN3 | ----PE------P-----KRRH--LG-TL->-<--L-QPTV-NKF-SLRV---FGSHKAV-EI | 73 |
| HCN4 | ----PEAEVRL-G-QAGFMQRQ--FG-AM->-<--L-QPGV-NKF-SLRM---FGSQKAV-ER | 242 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.E365G | c.1094A>G | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing. BMC Cardiovasc Disord. 2012 12:95. doi: 10.1186/1471-2261-12-95. 23098067 | ||