No paralogue variants have been mapped to residue 397 for KCNH2.
KCNH2 | TEKVTQVL---SLGADVL-PEYKLQAPRIH>R<WTILHYSPFKA-VWDWLILLLVIYTAVFTP | 426 |
KCNH1 | HSRLAEVL---QLGSDIL-PQYKQEAPKTP>P<HIILHYCVFKT-TWDWIILILTFYTAILVP | 236 |
KCNH3 | KHKLNKGV---FGEKPNL-PEYKVAAIRKS>P<FILLHCGALRA-TWDGFILLATLYVAVTVP | 243 |
KCNH4 | GMKANNNV---FEPKPSV-PEYKVASVGGS>R<CLLLHYSVSKA-IWDGLILLATFYVAVTVP | 245 |
KCNH5 | HSRLAEVL---QLGSDIL-PQYKQEAPKTP>P<HIILHYCAFKT-TWDWVILILTFYTAIMVP | 233 |
KCNH6 | TEKVTQVL---SLGADVL-PEYKLQAPRIH>R<WTILHYSPFKA-VWDWLILLLVIYTAVFTP | 275 |
KCNH7 | TEKVTQVL---SLGADVL-PEYKLQTPRIN>K<FTILHYSPFKA-VWDWLILLLVIYTAIFTP | 426 |
KCNH8 | KLKINNNV---FVDKPAF-PEYKVSDAKKS>K<FILLHFSTFKA-GWDWLILLATFYVAVTVP | 240 |
CNGA1 | -K-KKKD-KEKKKK--EEKSKDKKEEEKKE>V<VVIDPSGNTYY-NWLFCITLPVMYNWTMVI | 184 |
CNGA2 | -----------------KDGEDKGTKKKFE>L<FVLDPAGDWYY-CWLFVIAMPVLYNWCLLV | 159 |
CNGA3 | RS-AWPLAKCNTNTSNN-TEEE-KKTKKKD>A<IVVDPSSNLYY-RWLTAIALPVFYNWYLLI | 187 |
CNGA4 | -------------------SPPAPSKARKL>L<PVLDPSGDYYY-WWLNTMVFPVMYNLIILV | 53 |
CNGB1 | EHYCDMLC----CKFKHR-PW----KKYQF>P<QSIDPLTNLMYVLWLFFVVMAWNWNCWLIP | 675 |
CNGB3 | EHYYRLLW----FKVKKM-PLTEYLKRIKL>P<NSIDSYTDRLYLLWLLLVTLAYNWNCCFIP | 237 |
HCN1 | NKF-SLRM---FGSQKAV-EKEQERVKTAG>F<WIIHPYSDFRF-YWDLIMLIMMVGNLVIIP | 161 |
HCN2 | NKF-SLRM---FGSQKAV-EREQERVKSAG>A<WIIHPYSDFRF-YWDFTMLLFMVGNLIIIP | 230 |
HCN3 | NKF-SLRV---FGSHKAV-EIEQERVKSAG>A<WIIHPYSDFRF-YWDLIMLLLMVGNLIVLP | 112 |
HCN4 | NKF-SLRM---FGSQKAV-EREQERVKSAG>F<WIIHPYSDFRF-YWDLTMLLLMVGNLIIIP | 281 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R397H | c.1190G>A | Putative Benign | rs368817970 | SIFT: tolerated Polyphen: probably damaging |