Paralogue Annotation for KCNH2 residue 546

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 546
Reference Amino Acid: G - Glycine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNH2 residue 546

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNH1G375RZimmermann-Laband syndromeHigh6 25915598, 25915598, 27282200

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.



KCNH2IGLLKTARLLRLVRVARKLDRY-----SEY>G<AAV-LFLLMCTFALIAHWLACIWYAIGNME575
KCNH1FSSLKVVRLLRLGRVARKLDHY-----IEY>G<AAV-LVLLVCVFGLAAHWMACIWYSIGDYE404
KCNH3AHLLKTVRLLRLLRLLPRLDRY-----SQY>S<AVV-LTLLMAVFALLAHWVACVWFYIGQRE385
KCNH4VHLLKTVRLLRLLRLLQKLERY-----SQC>S<AVV-LTLLMSVFALLAHWMACIWYVIGRRE387
KCNH5FSSLKVVRLLRLGRVARKLDHY-----LEY>G<AAV-LVLLVCVFGLVAHWLACIWYSIGDYE374
KCNH6IGLLKTARLLRLVRVARKLDRY-----SEY>G<AAV-LFLLMCTFALIAHWLACIWYAIGNVE426
KCNH7IGLLKTARLLRLVRVARKLDRY-----SEY>G<AAV-LMLLMCIFALIAHWLACIWYAIGNVE577
KCNH8VHLLKTVRLLRLLRLLQKLDRY-----SQH>S<TIV-LTLLMSMFALLAHWMACIWYVIGKME381
CNGA1IRLNRLLRFSRMFEFFQRTETR-----TNY>P<NIFRISNLVMYIVIIIHWNACVFYSISKAI325
CNGA2VRFNRLLHFARMFEFFDRTETR-----TNY>P<NIFRISNLVLYILVIIHWNACIYYAISKSI300
CNGA3VRFNRLLKFSRLFEFFDRTETR-----TNY>P<NMFRIGNLVLYILIIIHWNACIYFAISKFI328
CNGA4LRLNRFLRAPRLFEAFDRTETR-----TAY>P<NAFRIAKLMLYIFVVIHWNSCLYFALSRYL194
CNGB1LRLPRCLKYMAFFEFNSRLESI-----LSK>A<YVYRVIRTTAYLLYSLHLNSCLYYWASAYQ816
CNGB3FRANRMLKYTSFFEFNHHLESI-----MDK>A<YIYRVIRTTGYLLFILHINACVYYWASNYE378
HCN1LSLLRLLRLSRLIRYIHQWEEIFHMTYDLA>S<AVVRIFNLIGMMLLLCHWDGCLQFLVPLLQ323
HCN2LSLLRLLRLSRLIRYIHQWEEIFHMTYDLA>S<AVMRICNLISMMLLLCHWDGCLQFLVPMLQ392
HCN3LSLLRLLRLSRLIRYIHQWEEIFHMTYDLA>S<AVVRIFNLIGMMLLLCHWDGCLQFLVPMLQ276
HCN4LSLLRLLRLSRLIRYIHQWEEIFHMTYDLA>S<AVVRIVNLIGMMLLLCHWDGCLQFLVPMLQ443
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

There are currently no reported variants at residue 546 for KCNH2.