Paralogue Annotation for KCNH2 residue 433

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 433
Reference Amino Acid: L - Leucine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNH2 residue 433

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CNGA3E194KColour-blindness, totalMedium6 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.



KCNH2SPFKA-VWDWLILLLVIYTAVFTPYSAAFL>L<KETEEGPPATECGYACQPLAVVDLIVDIMF463
KCNH1CVFKT-TWDWIILILTFYTAILVPYNVSFK>T<RQN------------NVAWLVVDSIVDVIF261
KCNH3GALRA-TWDGFILLATLYVAVTVPYSVCVS>T<ARE--------PSAARGPPSVCDLAVEVLF272
KCNH4SVSKA-IWDGLILLATFYVAVTVPYNVCFS>G<DDD--------TPITSRHTLVSDIAVEMLF274
KCNH5CAFKT-TWDWVILILTFYTAIMVPYNVSFK>T<KQN------------NIAWLVLDSVVDVIF258
KCNH6SPFKA-VWDWLILLLVIYTAVFTPYSAAFL>L<SDQDE-SRRGACSYTCSPLTVVDLIVDIMF311
KCNH7SPFKA-VWDWLILLLVIYTAIFTPYSAAFL>L<NDREE-QKRRECGYSCSPLNVVDLIVDIMF462
KCNH8STFKA-GWDWLILLATFYVAVTVPYNVCFI>G<NDD--------LS-TTRSTTVSDIAVEILF268
CNGA1GNTYY-NWLFCITLPVMYNWTMVIARACFD>E<LQS----------DYLEYWLILDYVSDIVY211
CNGA2GDWYY-CWLFVIAMPVLYNWCLLVARACFS>D<LQK----------GYYLVWLVLDYVSDVVY186
CNGA3SNLYY-RWLTAIALPVFYNWYLLICRACFD>E<LQS----------EYLMLWLVLDYSADVLY214
CNGA4GDYYY-WWLNTMVFPVMYNLIILVCRACFP>D<LQH----------GYLVAWLVLDYTSDLLY80
CNGB1TNLMYVLWLFFVVMAWNWNCWLIPVRWAFP>Y<QTP----------DNIHHWLLMDYLCDLIY702
CNGB3TDRLYLLWLLLVTLAYNWNCCFIPLRLVFP>Y<QTA----------DNIHYWLIADIICDIIY264
HCN1SDFRF-YWDLIMLIMMVGNLVIIPVGITFF>T<EQT------------TTPWIIFNVASDTVF186
HCN2SDFRF-YWDFTMLLFMVGNLIIIPVGITFF>K<DET------------TAPWIVFNVVSDTFF255
HCN3SDFRF-YWDLIMLLLMVGNLIVLPVGITFF>K<EEN------------SPPWIVFNVLSDTFF137
HCN4SDFRF-YWDLTMLLLMVGNLIIIPVGITFF>K<DEN------------TTPWIVFNVVSDTFF306
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

There are currently no reported variants at residue 433 for KCNH2.