Paralogue Annotation for KCNH2 residue 407

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 407
Reference Amino Acid: K - Lysine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNH2 residue 407

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNH1K217NTemple-Baraister syndromeHigh6 25420144, 25420144

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.



KCNH2-SLGADVL-PEYKLQAPRIHRWTILHYSPF>K<A-VWDWLILLLVIYTAVFTPYSAAFLLKET436
KCNH1-QLGSDIL-PQYKQEAPKTPPHIILHYCVF>K<T-TWDWIILILTFYTAILVPYNVSFKTRQN246
KCNH3-FGEKPNL-PEYKVAAIRKSPFILLHCGAL>R<A-TWDGFILLATLYVAVTVPYSVCVSTARE253
KCNH4-FEPKPSV-PEYKVASVGGSRCLLLHYSVS>K<A-IWDGLILLATFYVAVTVPYNVCFSGDDD255
KCNH5-QLGSDIL-PQYKQEAPKTPPHIILHYCAF>K<T-TWDWVILILTFYTAIMVPYNVSFKTKQN243
KCNH6-SLGADVL-PEYKLQAPRIHRWTILHYSPF>K<A-VWDWLILLLVIYTAVFTPYSAAFLLSDQ285
KCNH7-SLGADVL-PEYKLQTPRINKFTILHYSPF>K<A-VWDWLILLLVIYTAIFTPYSAAFLLNDR436
KCNH8-FVDKPAF-PEYKVSDAKKSKFILLHFSTF>K<A-GWDWLILLATFYVAVTVPYNVCFIGNDD250
CNGA1KKKK--EEKSKDKKEEEKKEVVVIDPSGNT>Y<Y-NWLFCITLPVMYNWTMVIARACFDELQS194
CNGA2-------KDGEDKGTKKKFELFVLDPAGDW>Y<Y-CWLFVIAMPVLYNWCLLVARACFSDLQK169
CNGA3NTNTSNN-TEEE-KKTKKKDAIVVDPSSNL>Y<Y-RWLTAIALPVFYNWYLLICRACFDELQS197
CNGA4---------SPPAPSKARKLLPVLDPSGDY>Y<Y-WWLNTMVFPVMYNLIILVCRACFPDLQH63
CNGB1--CKFKHR-PW----KKYQFPQSIDPLTNL>M<YVLWLFFVVMAWNWNCWLIPVRWAFPYQTP685
CNGB3--FKVKKM-PLTEYLKRIKLPNSIDSYTDR>L<YLLWLLLVTLAYNWNCCFIPLRLVFPYQTA247
HCN1-FGSQKAV-EKEQERVKTAGFWIIHPYSDF>R<F-YWDLIMLIMMVGNLVIIPVGITFFTEQT171
HCN2-FGSQKAV-EREQERVKSAGAWIIHPYSDF>R<F-YWDFTMLLFMVGNLIIIPVGITFFKDET240
HCN3-FGSHKAV-EIEQERVKSAGAWIIHPYSDF>R<F-YWDLIMLLLMVGNLIVLPVGITFFKEEN122
HCN4-FGSQKAV-EREQERVKSAGFWIIHPYSDF>R<F-YWDLTMLLLMVGNLIIIPVGITFFKDEN291
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

There are currently no reported variants at residue 407 for KCNH2.