No paralogue variants have been mapped to residue 331 for KCNH2.
KCNH2 | STGAMHPLRSGLLNSTSDSDLVRYR---TI>S<KIPQITLNFVDLKGDPFLASP-T-SDREII | 359 |
KCNH1 | ----------------------KFA----->-<------------RLTRALTSS-R-GVLQQL | 168 |
KCNH3 | -----------------------S------>-<-----------KGFNANRRRS-R-AVLYHL | 177 |
KCNH4 | -----------------------A------>-<----------TWKFRSARRRS-R-TVLHRL | 179 |
KCNH5 | ----------------------KFA----->-<------------RLTRALTNS-R-SVLQQL | 166 |
KCNH6 | ------------------TGRGKYR---TI>S<QIPQFTLNFVEFNLEKHRSSS-T-TEIEII | 207 |
KCNH7 | VKGPFNHIKSSLLGSTSDSNLNKYS---TI>N<KIPQLTLNFSEVKTEKKNSSPPS-SDKTII | 359 |
KCNH8 | -----------------------A------>-<----------GTHFDSARRRS-R-AVLYHI | 174 |
CNGA1 | ------------------------------>-<--------KKK-KKKEKKSKS-D-DKNENK | 123 |
CNGA2 | ------------------------------>-<--------FLE-RFRGPELQT-V-TTQEGD | 112 |
CNGA3 | ------------------------------>-<--------FPD-RFRGAELKE-V-SSQESN | 116 |
CNGA4 | ------------------------------>-<-----------------KVKT-T-ES---- | 12 |
CNGB1 | RAASTASTNSAIINDRLQELVKLFKERTEK>V<-KEKLIDPDVTSDEE-SPKPSPA-KKAPEP | 609 |
CNGB3 | --PPAAPVINEYADAQLHNLVKRMRQRTAL>Y<-KKKLVEGDLSS-----PEASPQ-TAKPTA | 169 |
HCN1 | ------------------------------>-<------------EDAEGPR-R-QYGFMQRQ | 97 |
HCN2 | ------------------------------>-<------------PAGEPRG-S-QASFMQRQ | 166 |
HCN3 | ------------------------------>-<------------PE------P-----KRRH | 48 |
HCN4 | ------------------------------>-<------------PEAEVRL-G-QAGFMQRQ | 217 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S331N | c.992G>A | Putative Benign | SIFT: Polyphen: |