No paralogue variants have been mapped to residue 544 for KCNH2.
KCNH2 | -LIGLLKTARLLRLVRVARKLDRY-----S>E<YGAAV-LFLLMCTFALIAHWLACIWYAIGN | 573 |
KCNH1 | SLFSSLKVVRLLRLGRVARKLDHY-----I>E<YGAAV-LVLLVCVFGLAAHWMACIWYSIGD | 402 |
KCNH3 | FGAHLLKTVRLLRLLRLLPRLDRY-----S>Q<YSAVV-LTLLMAVFALLAHWVACVWFYIGQ | 383 |
KCNH4 | SLVHLLKTVRLLRLLRLLQKLERY-----S>Q<CSAVV-LTLLMSVFALLAHWMACIWYVIGR | 385 |
KCNH5 | SLFSSLKVVRLLRLGRVARKLDHY-----L>E<YGAAV-LVLLVCVFGLVAHWLACIWYSIGD | 372 |
KCNH6 | TLIGLLKTARLLRLVRVARKLDRY-----S>E<YGAAV-LFLLMCTFALIAHWLACIWYAIGN | 424 |
KCNH7 | TLIGLLKTARLLRLVRVARKLDRY-----S>E<YGAAV-LMLLMCIFALIAHWLACIWYAIGN | 575 |
KCNH8 | SLVHLLKTVRLLRLLRLLQKLDRY-----S>Q<HSTIV-LTLLMSMFALLAHWMACIWYVIGK | 379 |
CNGA1 | PEIRLNRLLRFSRMFEFFQRTETR-----T>N<YPNIFRISNLVMYIVIIIHWNACVFYSISK | 323 |
CNGA2 | PEVRFNRLLHFARMFEFFDRTETR-----T>N<YPNIFRISNLVLYILVIIHWNACIYYAISK | 298 |
CNGA3 | PEVRFNRLLKFSRLFEFFDRTETR-----T>N<YPNMFRIGNLVLYILIIIHWNACIYFAISK | 326 |
CNGA4 | PTLRLNRFLRAPRLFEAFDRTETR-----T>A<YPNAFRIAKLMLYIFVVIHWNSCLYFALSR | 192 |
CNGB1 | PLLRLPRCLKYMAFFEFNSRLESI-----L>S<KAYVYRVIRTTAYLLYSLHLNSCLYYWASA | 814 |
CNGB3 | PMFRANRMLKYTSFFEFNHHLESI-----M>D<KAYIYRVIRTTGYLLFILHINACVYYWASN | 376 |
HCN1 | KILSLLRLLRLSRLIRYIHQWEEIFHMTYD>L<ASAVVRIFNLIGMMLLLCHWDGCLQFLVPL | 321 |
HCN2 | KILSLLRLLRLSRLIRYIHQWEEIFHMTYD>L<ASAVMRICNLISMMLLLCHWDGCLQFLVPM | 390 |
HCN3 | KILSLLRLLRLSRLIRYIHQWEEIFHMTYD>L<ASAVVRIFNLIGMMLLLCHWDGCLQFLVPM | 274 |
HCN4 | KILSLLRLLRLSRLIRYIHQWEEIFHMTYD>L<ASAVVRIVNLIGMMLLLCHWDGCLQFLVPM | 441 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E544A | c.1631A>C | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
Reports | Inherited Arrhythmia | LQTS | 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 |