Paralogue Annotation for KCNH2 residue 544

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 544
Reference Amino Acid: E - Glutamate
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNH2 residue 544

No paralogue variants have been mapped to residue 544 for KCNH2.



KCNH2-LIGLLKTARLLRLVRVARKLDRY-----S>E<YGAAV-LFLLMCTFALIAHWLACIWYAIGN573
KCNH1SLFSSLKVVRLLRLGRVARKLDHY-----I>E<YGAAV-LVLLVCVFGLAAHWMACIWYSIGD402
KCNH3FGAHLLKTVRLLRLLRLLPRLDRY-----S>Q<YSAVV-LTLLMAVFALLAHWVACVWFYIGQ383
KCNH4SLVHLLKTVRLLRLLRLLQKLERY-----S>Q<CSAVV-LTLLMSVFALLAHWMACIWYVIGR385
KCNH5SLFSSLKVVRLLRLGRVARKLDHY-----L>E<YGAAV-LVLLVCVFGLVAHWLACIWYSIGD372
KCNH6TLIGLLKTARLLRLVRVARKLDRY-----S>E<YGAAV-LFLLMCTFALIAHWLACIWYAIGN424
KCNH7TLIGLLKTARLLRLVRVARKLDRY-----S>E<YGAAV-LMLLMCIFALIAHWLACIWYAIGN575
KCNH8SLVHLLKTVRLLRLLRLLQKLDRY-----S>Q<HSTIV-LTLLMSMFALLAHWMACIWYVIGK379
CNGA1PEIRLNRLLRFSRMFEFFQRTETR-----T>N<YPNIFRISNLVMYIVIIIHWNACVFYSISK323
CNGA2PEVRFNRLLHFARMFEFFDRTETR-----T>N<YPNIFRISNLVLYILVIIHWNACIYYAISK298
CNGA3PEVRFNRLLKFSRLFEFFDRTETR-----T>N<YPNMFRIGNLVLYILIIIHWNACIYFAISK326
CNGA4PTLRLNRFLRAPRLFEAFDRTETR-----T>A<YPNAFRIAKLMLYIFVVIHWNSCLYFALSR192
CNGB1PLLRLPRCLKYMAFFEFNSRLESI-----L>S<KAYVYRVIRTTAYLLYSLHLNSCLYYWASA814
CNGB3PMFRANRMLKYTSFFEFNHHLESI-----M>D<KAYIYRVIRTTGYLLFILHINACVYYWASN376
HCN1KILSLLRLLRLSRLIRYIHQWEEIFHMTYD>L<ASAVVRIFNLIGMMLLLCHWDGCLQFLVPL321
HCN2KILSLLRLLRLSRLIRYIHQWEEIFHMTYD>L<ASAVMRICNLISMMLLLCHWDGCLQFLVPM390
HCN3KILSLLRLLRLSRLIRYIHQWEEIFHMTYD>L<ASAVVRIFNLIGMMLLLCHWDGCLQFLVPM274
HCN4KILSLLRLLRLSRLIRYIHQWEEIFHMTYD>L<ASAVVRIVNLIGMMLLLCHWDGCLQFLVPM441
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E544Ac.1631A>C Inherited ArrhythmiaLQTSSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS Common Genotypes of Long QT Syndrome in China and the Role of ECG Prediction. Cardiology. 2016 133(2):73-8. doi: 10.1159/000440608. 26496715