Paralogue Annotation for KCNH2 residue 550

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 550
Reference Amino Acid: L - Leucine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNH2 residue 550

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNH1L379VZimmermann-Laband syndromeHigh6 25915598, 25915598

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.



KCNH2TARLLRLVRVARKLDRY-----SEYGAAV->L<FLLMCTFALIAHWLACIWYAIGNMEQPHMD580
KCNH1VVRLLRLGRVARKLDHY-----IEYGAAV->L<VLLVCVFGLAAHWMACIWYSIGDYEIFDED409
KCNH3TVRLLRLLRLLPRLDRY-----SQYSAVV->L<TLLMAVFALLAHWVACVWFYIGQREIESSE390
KCNH4TVRLLRLLRLLQKLERY-----SQCSAVV->L<TLLMSVFALLAHWMACIWYVIGRREMEAND392
KCNH5VVRLLRLGRVARKLDHY-----LEYGAAV->L<VLLVCVFGLVAHWLACIWYSIGDYEVIDEV379
KCNH6TARLLRLVRVARKLDRY-----SEYGAAV->L<FLLMCTFALIAHWLACIWYAIGNVERPYLE431
KCNH7TARLLRLVRVARKLDRY-----SEYGAAV->L<MLLMCIFALIAHWLACIWYAIGNVERPYLT582
KCNH8TVRLLRLLRLLQKLDRY-----SQHSTIV->L<TLLMSMFALLAHWMACIWYVIGKMEREDNS386
CNGA1LLRFSRMFEFFQRTETR-----TNYPNIFR>I<SNLVMYIVIIIHWNACVFYSISKAIGFGND330
CNGA2LLHFARMFEFFDRTETR-----TNYPNIFR>I<SNLVLYILVIIHWNACIYYAISKSIGFGVD305
CNGA3LLKFSRLFEFFDRTETR-----TNYPNMFR>I<GNLVLYILIIIHWNACIYFAISKFIGFGTD333
CNGA4FLRAPRLFEAFDRTETR-----TAYPNAFR>I<AKLMLYIFVVIHWNSCLYFALSRYLGFGRD199
CNGB1CLKYMAFFEFNSRLESI-----LSKAYVYR>V<IRTTAYLLYSLHLNSCLYYWASAYQGLGST821
CNGB3MLKYTSFFEFNHHLESI-----MDKAYIYR>V<IRTTGYLLFILHINACVYYWASNYEGIGTT383
HCN1LLRLSRLIRYIHQWEEIFHMTYDLASAVVR>I<FNLIGMMLLLCHWDGCLQFLVPLLQDFPPD328
HCN2LLRLSRLIRYIHQWEEIFHMTYDLASAVMR>I<CNLISMMLLLCHWDGCLQFLVPMLQDFPRN397
HCN3LLRLSRLIRYIHQWEEIFHMTYDLASAVVR>I<FNLIGMMLLLCHWDGCLQFLVPMLQDFPPD281
HCN4LLRLSRLIRYIHQWEEIFHMTYDLASAVVR>I<VNLIGMMLLLCHWDGCLQFLVPMLQDFPDD448
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

There are currently no reported variants at residue 550 for KCNH2.