Paralogue Annotation for KCNH2 residue 401

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 401
Reference Amino Acid: L - Leucine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 401

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CNGA3D162VColour-blindness, totalMedium9 11536077

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in KCNH2.



KCNH2TQVL---SLGADVL-PEYKLQAPRIHRWTI>L<HYSPFKA-VWDWLILLLVIYTAVFTPYSAA430
KCNH1AEVL---QLGSDIL-PQYKQEAPKTPPHII>L<HYCVFKT-TWDWIILILTFYTAILVPYNVS240
KCNH3NKGV---FGEKPNL-PEYKVAAIRKSPFIL>L<HCGALRA-TWDGFILLATLYVAVTVPYSVC247
KCNH4NNNV---FEPKPSV-PEYKVASVGGSRCLL>L<HYSVSKA-IWDGLILLATFYVAVTVPYNVC249
KCNH5AEVL---QLGSDIL-PQYKQEAPKTPPHII>L<HYCAFKT-TWDWVILILTFYTAIMVPYNVS237
KCNH6TQVL---SLGADVL-PEYKLQAPRIHRWTI>L<HYSPFKA-VWDWLILLLVIYTAVFTPYSAA279
KCNH7TQVL---SLGADVL-PEYKLQTPRINKFTI>L<HYSPFKA-VWDWLILLLVIYTAIFTPYSAA430
KCNH8NNNV---FVDKPAF-PEYKVSDAKKSKFIL>L<HFSTFKA-GWDWLILLATFYVAVTVPYNVC244
CNGA1KKD-KEKKKK--EEKSKDKKEEEKKEVVVI>D<PSGNTYY-NWLFCITLPVMYNWTMVIARAC188
CNGA2-------------KDGEDKGTKKKFELFVL>D<PAGDWYY-CWLFVIAMPVLYNWCLLVARAC163
CNGA3WPLAKCNTNTSNN-TEEE-KKTKKKDAIVV>D<PSSNLYY-RWLTAIALPVFYNWYLLICRAC191
CNGA4---------------SPPAPSKARKLLPVL>D<PSGDYYY-WWLNTMVFPVMYNLIILVCRAC57
CNGB1DMLC----CKFKHR-PW----KKYQFPQSI>D<PLTNLMYVLWLFFVVMAWNWNCWLIPVRWA679
CNGB3RLLW----FKVKKM-PLTEYLKRIKLPNSI>D<SYTDRLYLLWLLLVTLAYNWNCCFIPLRLV241
HCN1SLRM---FGSQKAV-EKEQERVKTAGFWII>H<PYSDFRF-YWDLIMLIMMVGNLVIIPVGIT165
HCN2SLRM---FGSQKAV-EREQERVKSAGAWII>H<PYSDFRF-YWDFTMLLFMVGNLIIIPVGIT234
HCN3SLRV---FGSHKAV-EIEQERVKSAGAWII>H<PYSDFRF-YWDLIMLLLMVGNLIVLPVGIT116
HCN4SLRM---FGSQKAV-EREQERVKSAGFWII>H<PYSDFRF-YWDLTMLLLMVGNLIIIPVGIT285
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

There are currently no reported variants at residue 401 for KCNH2.