Paralogue Annotation for KCNH2 residue 418

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 418
Reference Amino Acid: V - Valine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNH2 residue 418

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CNGA3V179DAchromatopsiaHigh9 25277229

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.



KCNH2KLQAPRIHRWTILHYSPFKA-VWDWLILLL>V<IYTAVFTPYSAAFLLKETEEGPPATECGYA448
KCNH1KQEAPKTPPHIILHYCVFKT-TWDWIILIL>T<FYTAILVPYNVSFKTRQN------------246
KCNH3KVAAIRKSPFILLHCGALRA-TWDGFILLA>T<LYVAVTVPYSVCVSTARE--------PSAA257
KCNH4KVASVGGSRCLLLHYSVSKA-IWDGLILLA>T<FYVAVTVPYNVCFSGDDD--------TPIT259
KCNH5KQEAPKTPPHIILHYCAFKT-TWDWVILIL>T<FYTAIMVPYNVSFKTKQN------------243
KCNH6KLQAPRIHRWTILHYSPFKA-VWDWLILLL>V<IYTAVFTPYSAAFLLSDQDE-SRRGACSYT296
KCNH7KLQTPRINKFTILHYSPFKA-VWDWLILLL>V<IYTAIFTPYSAAFLLNDREE-QKRRECGYS447
KCNH8KVSDAKKSKFILLHFSTFKA-GWDWLILLA>T<FYVAVTVPYNVCFIGNDD--------LS-T253
CNGA1KKEEEKKEVVVIDPSGNTYY-NWLFCITLP>V<MYNWTMVIARACFDELQS----------DY196
CNGA2KGTKKKFELFVLDPAGDWYY-CWLFVIAMP>V<LYNWCLLVARACFSDLQK----------GY171
CNGA3-KKTKKKDAIVVDPSSNLYY-RWLTAIALP>V<FYNWYLLICRACFDELQS----------EY199
CNGA4APSKARKLLPVLDPSGDYYY-WWLNTMVFP>V<MYNLIILVCRACFPDLQH----------GY65
CNGB1---KKYQFPQSIDPLTNLMYVLWLFFVVMA>W<NWNCWLIPVRWAFPYQTP----------DN687
CNGB3EYLKRIKLPNSIDSYTDRLYLLWLLLVTLA>Y<NWNCCFIPLRLVFPYQTA----------DN249
HCN1QERVKTAGFWIIHPYSDFRF-YWDLIMLIM>M<VGNLVIIPVGITFFTEQT------------171
HCN2QERVKSAGAWIIHPYSDFRF-YWDFTMLLF>M<VGNLIIIPVGITFFKDET------------240
HCN3QERVKSAGAWIIHPYSDFRF-YWDLIMLLL>M<VGNLIVLPVGITFFKEEN------------122
HCN4QERVKSAGFWIIHPYSDFRF-YWDLTMLLL>M<VGNLIIIPVGITFFKDEN------------291
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

There are currently no reported variants at residue 418 for KCNH2.