Paralogue Annotation for KCNH2 residue 554

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 554
Reference Amino Acid: M - Methionine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNH2 residue 554

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNH1V383LZimmermann-Laband syndromeMedium9 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.



KCNH2LRLVRVARKLDRY-----SEYGAAV-LFLL>M<CTFALIAHWLACIWYAIGNMEQPHMDSR--582
KCNH1LRLGRVARKLDHY-----IEYGAAV-LVLL>V<CVFGLAAHWMACIWYSIGDYEIFDEDTKTI413
KCNH3LRLLRLLPRLDRY-----SQYSAVV-LTLL>M<AVFALLAHWVACVWFYIGQREIESSESELP394
KCNH4LRLLRLLQKLERY-----SQCSAVV-LTLL>M<SVFALLAHWMACIWYVIGRREMEANDPLLW396
KCNH5LRLGRVARKLDHY-----LEYGAAV-LVLL>V<CVFGLVAHWLACIWYSIGDYEVIDEVTNTI383
KCNH6LRLVRVARKLDRY-----SEYGAAV-LFLL>M<CTFALIAHWLACIWYAIGNVERPYLEHK--433
KCNH7LRLVRVARKLDRY-----SEYGAAV-LMLL>M<CIFALIAHWLACIWYAIGNVERPYLTDK--584
KCNH8LRLLRLLQKLDRY-----SQHSTIV-LTLL>M<SMFALLAHWMACIWYVIGKMEREDNSLLKW390
CNGA1SRMFEFFQRTETR-----TNYPNIFRISNL>V<MYIVIIIHWNACVFYSISKAIGFGND----330
CNGA2ARMFEFFDRTETR-----TNYPNIFRISNL>V<LYILVIIHWNACIYYAISKSIGFGVD----305
CNGA3SRLFEFFDRTETR-----TNYPNMFRIGNL>V<LYILIIIHWNACIYFAISKFIGFGTD----333
CNGA4PRLFEAFDRTETR-----TAYPNAFRIAKL>M<LYIFVVIHWNSCLYFALSRYLGFGRD----199
CNGB1MAFFEFNSRLESI-----LSKAYVYRVIRT>T<AYLLYSLHLNSCLYYWASAYQGLGST----821
CNGB3TSFFEFNHHLESI-----MDKAYIYRVIRT>T<GYLLFILHINACVYYWASNYEGIGTT----383
HCN1SRLIRYIHQWEEIFHMTYDLASAVVRIFNL>I<GMMLLLCHWDGCLQFLVPLLQDFPPD----328
HCN2SRLIRYIHQWEEIFHMTYDLASAVMRICNL>I<SMMLLLCHWDGCLQFLVPMLQDFPRN----397
HCN3SRLIRYIHQWEEIFHMTYDLASAVVRIFNL>I<GMMLLLCHWDGCLQFLVPMLQDFPPD----281
HCN4SRLIRYIHQWEEIFHMTYDLASAVVRIVNL>I<GMMLLLCHWDGCLQFLVPMLQDFPDD----448
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

There are currently no reported variants at residue 554 for KCNH2.