Paralogue Annotation for KCNH2 residue 547

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 547
Reference Amino Acid: A - Alanine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNH2 residue 547

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
HCN4A414GBradycardia & left ventricular noncompaction cardiHigh6 25145517, 25145517

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.



KCNH2GLLKTARLLRLVRVARKLDRY-----SEYG>A<AV-LFLLMCTFALIAHWLACIWYAIGNMEQ576
KCNH1SSLKVVRLLRLGRVARKLDHY-----IEYG>A<AV-LVLLVCVFGLAAHWMACIWYSIGDYEI405
KCNH3HLLKTVRLLRLLRLLPRLDRY-----SQYS>A<VV-LTLLMAVFALLAHWVACVWFYIGQREI386
KCNH4HLLKTVRLLRLLRLLQKLERY-----SQCS>A<VV-LTLLMSVFALLAHWMACIWYVIGRREM388
KCNH5SSLKVVRLLRLGRVARKLDHY-----LEYG>A<AV-LVLLVCVFGLVAHWLACIWYSIGDYEV375
KCNH6GLLKTARLLRLVRVARKLDRY-----SEYG>A<AV-LFLLMCTFALIAHWLACIWYAIGNVER427
KCNH7GLLKTARLLRLVRVARKLDRY-----SEYG>A<AV-LMLLMCIFALIAHWLACIWYAIGNVER578
KCNH8HLLKTVRLLRLLRLLQKLDRY-----SQHS>T<IV-LTLLMSMFALLAHWMACIWYVIGKMER382
CNGA1RLNRLLRFSRMFEFFQRTETR-----TNYP>N<IFRISNLVMYIVIIIHWNACVFYSISKAIG326
CNGA2RFNRLLHFARMFEFFDRTETR-----TNYP>N<IFRISNLVLYILVIIHWNACIYYAISKSIG301
CNGA3RFNRLLKFSRLFEFFDRTETR-----TNYP>N<MFRIGNLVLYILIIIHWNACIYFAISKFIG329
CNGA4RLNRFLRAPRLFEAFDRTETR-----TAYP>N<AFRIAKLMLYIFVVIHWNSCLYFALSRYLG195
CNGB1RLPRCLKYMAFFEFNSRLESI-----LSKA>Y<VYRVIRTTAYLLYSLHLNSCLYYWASAYQG817
CNGB3RANRMLKYTSFFEFNHHLESI-----MDKA>Y<IYRVIRTTGYLLFILHINACVYYWASNYEG379
HCN1SLLRLLRLSRLIRYIHQWEEIFHMTYDLAS>A<VVRIFNLIGMMLLLCHWDGCLQFLVPLLQD324
HCN2SLLRLLRLSRLIRYIHQWEEIFHMTYDLAS>A<VMRICNLISMMLLLCHWDGCLQFLVPMLQD393
HCN3SLLRLLRLSRLIRYIHQWEEIFHMTYDLAS>A<VVRIFNLIGMMLLLCHWDGCLQFLVPMLQD277
HCN4SLLRLLRLSRLIRYIHQWEEIFHMTYDLAS>A<VVRIVNLIGMMLLLCHWDGCLQFLVPMLQD444
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.A547Tc.1639G>A Putative Benignrs376021230SIFT: deleterious
Polyphen: probably damaging