No paralogue variants have been mapped to residue 379 for KCNH2.
| KCNH2 | I-AP-KIK-E--R-THNV-TEKVTQVL--->S<LGADVL-PEYKLQAPRIHRWTILHYSPFKA | 408 |
| KCNH1 | L-APS-VQKG--E-NVHK-HSRLAEVL--->Q<LGSDIL-PQYKQEAPKTPPHIILHYCVFKT | 218 |
| KCNH3 | L-SGH-LQK---Q-PKG--KHKLNKGV--->F<GEKPNL-PEYKVAAIRKSPFILLHCGALRA | 225 |
| KCNH4 | L-TGH-FGR---R-GQG--GMKANNNV--->F<EPKPSV-PEYKVASVGGSRCLLLHYSVSKA | 227 |
| KCNH5 | L-TPM-NKT---E-VVHK-HSRLAEVL--->Q<LGSDIL-PQYKQEAPKTPPHIILHYCAFKT | 215 |
| KCNH6 | I-APHKVV-E--R-TQNV-TEKVTQVL--->S<LGADVL-PEYKLQAPRIHRWTILHYSPFKA | 257 |
| KCNH7 | I-AP-KVK-D--R-THNV-TEKVTQVL--->S<LGADVL-PEYKLQTPRINKFTILHYSPFKA | 408 |
| KCNH8 | I-SGH-LQR---R-EKN--KLKINNNV--->F<VDKPAF-PEYKVSDAKKSKFILLHFSTFKA | 222 |
| CNGA1 | KNDPE-KK------------K-KKKD-KEK>K<KK--EEKSKDKKEEEKKEVVVIDPSGNTYY | 166 |
| CNGA2 | DGKG--D----------------------->-<-----KDGEDKGTKKKFELFVLDPAGDWYY | 141 |
| CNGA3 | NAQ-A-NVGS--QEPADRGRS-AWPLAKCN>T<NTSNN-TEEE-KKTKKKDAIVVDPSSNLYY | 169 |
| CNGA4 | ------------------------------>-<-------SPPAPSKARKLLPVLDPSGDYYY | 35 |
| CNGB1 | P-APD-TKPAEAE-PVEE-EHYCDMLC--->-<CKFKHR-PW----KKYQFPQSIDPLTNLMY | 656 |
| CNGB3 | A-VPP-VKES--D-DKPT-EHYYRLLW--->-<FKVKKM-PLTEYLKRIKLPNSIDSYTDRLY | 218 |
| HCN1 | Q--FT-SM----L-QPGV-NKF-SLRM--->F<GSQKAV-EKEQERVKTAGFWIIHPYSDFRF | 143 |
| HCN2 | Q--FG-AL----L-QPGV-NKF-SLRM--->F<GSQKAV-EREQERVKSAGAWIIHPYSDFRF | 212 |
| HCN3 | H--LG-TL----L-QPTV-NKF-SLRV--->F<GSHKAV-EIEQERVKSAGAWIIHPYSDFRF | 94 |
| HCN4 | Q--FG-AM----L-QPGV-NKF-SLRM--->F<GSQKAV-EREQERVKSAGFWIIHPYSDFRF | 263 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.S379Y | c.1136C>A | Putative Benign | SIFT: Polyphen: |