No paralogue variants have been mapped to residue 409 for KCNH2.
KCNH2 | GADVL-PEYKLQAPRIHRWTILHYSPFKA->V<WDWLILLLVIYTAVFTPYSAAFLLKETEEG | 439 |
KCNH1 | GSDIL-PQYKQEAPKTPPHIILHYCVFKT->T<WDWIILILTFYTAILVPYNVSFKTRQN--- | 246 |
KCNH3 | EKPNL-PEYKVAAIRKSPFILLHCGALRA->T<WDGFILLATLYVAVTVPYSVCVSTARE--- | 253 |
KCNH4 | PKPSV-PEYKVASVGGSRCLLLHYSVSKA->I<WDGLILLATFYVAVTVPYNVCFSGDDD--- | 255 |
KCNH5 | GSDIL-PQYKQEAPKTPPHIILHYCAFKT->T<WDWVILILTFYTAIMVPYNVSFKTKQN--- | 243 |
KCNH6 | GADVL-PEYKLQAPRIHRWTILHYSPFKA->V<WDWLILLLVIYTAVFTPYSAAFLLSDQDE- | 287 |
KCNH7 | GADVL-PEYKLQTPRINKFTILHYSPFKA->V<WDWLILLLVIYTAIFTPYSAAFLLNDREE- | 438 |
KCNH8 | DKPAF-PEYKVSDAKKSKFILLHFSTFKA->G<WDWLILLATFYVAVTVPYNVCFIGNDD--- | 250 |
CNGA1 | K--EEKSKDKKEEEKKEVVVIDPSGNTYY->N<WLFCITLPVMYNWTMVIARACFDELQS--- | 194 |
CNGA2 | ----KDGEDKGTKKKFELFVLDPAGDWYY->C<WLFVIAMPVLYNWCLLVARACFSDLQK--- | 169 |
CNGA3 | TSNN-TEEE-KKTKKKDAIVVDPSSNLYY->R<WLTAIALPVFYNWYLLICRACFDELQS--- | 197 |
CNGA4 | ------SPPAPSKARKLLPVLDPSGDYYY->W<WLNTMVFPVMYNLIILVCRACFPDLQH--- | 63 |
CNGB1 | KFKHR-PW----KKYQFPQSIDPLTNLMYV>L<WLFFVVMAWNWNCWLIPVRWAFPYQTP--- | 685 |
CNGB3 | KVKKM-PLTEYLKRIKLPNSIDSYTDRLYL>L<WLLLVTLAYNWNCCFIPLRLVFPYQTA--- | 247 |
HCN1 | SQKAV-EKEQERVKTAGFWIIHPYSDFRF->Y<WDLIMLIMMVGNLVIIPVGITFFTEQT--- | 171 |
HCN2 | SQKAV-EREQERVKSAGAWIIHPYSDFRF->Y<WDFTMLLFMVGNLIIIPVGITFFKDET--- | 240 |
HCN3 | SHKAV-EIEQERVKSAGAWIIHPYSDFRF->Y<WDLIMLLLMVGNLIVLPVGITFFKEEN--- | 122 |
HCN4 | SQKAV-EREQERVKSAGFWIIHPYSDFRF->Y<WDLTMLLLMVGNLIIIPVGITFFKDEN--- | 291 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V409M | c.1225G>A | Putative Benign | SIFT: deleterious Polyphen: probably damaging | ||
p.V409L | c.1225G>T | Putative Benign | SIFT: Polyphen: | ||
p.Val409Glu | c.1226T>A | Unknown | SIFT: Polyphen: |