No paralogue variants have been mapped to residue 356 for KCNH2.
| KCNH2 | -TISKIPQITLNFVDLKGDPFLASP-T-SD>R<EII-AP-KIK-E--R-THNV-TEKVTQVL- | 378 |
| KCNH1 | ----------------RLTRALTSS-R-GV>L<QQL-APS-VQKG--E-NVHK-HSRLAEVL- | 188 |
| KCNH3 | ---------------KGFNANRRRS-R-AV>L<YHL-SGH-LQK---Q-PKG--KHKLNKGV- | 195 |
| KCNH4 | --------------TWKFRSARRRS-R-TV>L<HRL-TGH-FGR---R-GQG--GMKANNNV- | 197 |
| KCNH5 | ----------------RLTRALTNS-R-SV>L<QQL-TPM-NKT---E-VVHK-HSRLAEVL- | 185 |
| KCNH6 | -TISQIPQFTLNFVEFNLEKHRSSS-T-TE>I<EII-APHKVV-E--R-TQNV-TEKVTQVL- | 227 |
| KCNH7 | -TINKIPQLTLNFSEVKTEKKNSSPPS-SD>K<TII-AP-KVK-D--R-THNV-TEKVTQVL- | 378 |
| KCNH8 | --------------GTHFDSARRRS-R-AV>L<YHI-SGH-LQR---R-EKN--KLKINNNV- | 192 |
| CNGA1 | ------------KKK-KKKEKKSKS-D-DK>N<ENKNDPE-KK------------K-KKKD-K | 135 |
| CNGA2 | ------------FLE-RFRGPELQT-V-TT>Q<EGDGKG--D--------------------- | 116 |
| CNGA3 | ------------FPD-RFRGAELKE-V-SS>Q<ESNAQ-A-NVGS--QEPADRGRS-AWPLAK | 138 |
| CNGA4 | ---------------------KVKT-T-ES>-<------------------------------ | 12 |
| CNGB1 | TEKV-KEKLIDPDVTSDEE-SPKPSPA-KK>A<PEP-APD-TKPAEAE-PVEE-EHYCDMLC- | 631 |
| CNGB3 | TALY-KKKLVEGDLSS-----PEASPQ-TA>K<PTA-VPP-VKES--D-DKPT-EHYYRLLW- | 189 |
| HCN1 | ----------------EDAEGPR-R-QYGF>M<QRQ--FT-SM----L-QPGV-NKF-SLRM- | 113 |
| HCN2 | ----------------PAGEPRG-S-QASF>M<QRQ--FG-AL----L-QPGV-NKF-SLRM- | 182 |
| HCN3 | ----------------PE------P----->K<RRH--LG-TL----L-QPTV-NKF-SLRV- | 64 |
| HCN4 | ----------------PEAEVRL-G-QAGF>M<QRQ--FG-AM----L-QPGV-NKF-SLRM- | 233 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R356H | c.1067G>A | Inherited Arrhythmia | SIFT: Polyphen: | ||
| Reports | Inherited Arrhythmia | LQTS | Genetic analysis, in silico prediction, and family segregation in long QT syndrome. Eur J Hum Genet. 2015 23(1):79-85. doi: 10.1038/ejhg.2014.54. 24667783 | ||
| p.R356C | c.1066C>T | Putative Benign | SIFT: Polyphen: | ||