Paralogue Annotation for KCNH2 residue 425

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 425
Reference Amino Acid: T - Threonine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNH2 residue 425

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CNGA3L186FColour-blindness, totalMedium8 11536077, 26355662

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.



KCNH2HRWTILHYSPFKA-VWDWLILLLVIYTAVF>T<PYSAAFLLKETEEGPPATECGYACQPLAVV455
KCNH1PPHIILHYCVFKT-TWDWIILILTFYTAIL>V<PYNVSFKTRQN------------NVAWLVV253
KCNH3SPFILLHCGALRA-TWDGFILLATLYVAVT>V<PYSVCVSTARE--------PSAARGPPSVC264
KCNH4SRCLLLHYSVSKA-IWDGLILLATFYVAVT>V<PYNVCFSGDDD--------TPITSRHTLVS266
KCNH5PPHIILHYCAFKT-TWDWVILILTFYTAIM>V<PYNVSFKTKQN------------NIAWLVL250
KCNH6HRWTILHYSPFKA-VWDWLILLLVIYTAVF>T<PYSAAFLLSDQDE-SRRGACSYTCSPLTVV303
KCNH7NKFTILHYSPFKA-VWDWLILLLVIYTAIF>T<PYSAAFLLNDREE-QKRRECGYSCSPLNVV454
KCNH8SKFILLHFSTFKA-GWDWLILLATFYVAVT>V<PYNVCFIGNDD--------LS-TTRSTTVS260
CNGA1EVVVIDPSGNTYY-NWLFCITLPVMYNWTM>V<IARACFDELQS----------DYLEYWLIL203
CNGA2ELFVLDPAGDWYY-CWLFVIAMPVLYNWCL>L<VARACFSDLQK----------GYYLVWLVL178
CNGA3DAIVVDPSSNLYY-RWLTAIALPVFYNWYL>L<ICRACFDELQS----------EYLMLWLVL206
CNGA4LLPVLDPSGDYYY-WWLNTMVFPVMYNLII>L<VCRACFPDLQH----------GYLVAWLVL72
CNGB1FPQSIDPLTNLMYVLWLFFVVMAWNWNCWL>I<PVRWAFPYQTP----------DNIHHWLLM694
CNGB3LPNSIDSYTDRLYLLWLLLVTLAYNWNCCF>I<PLRLVFPYQTA----------DNIHYWLIA256
HCN1GFWIIHPYSDFRF-YWDLIMLIMMVGNLVI>I<PVGITFFTEQT------------TTPWIIF178
HCN2GAWIIHPYSDFRF-YWDFTMLLFMVGNLII>I<PVGITFFKDET------------TAPWIVF247
HCN3GAWIIHPYSDFRF-YWDLIMLLLMVGNLIV>L<PVGITFFKEEN------------SPPWIVF129
HCN4GFWIIHPYSDFRF-YWDLTMLLLMVGNLII>I<PVGITFFKDEN------------TTPWIVF298
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

There are currently no reported variants at residue 425 for KCNH2.