No paralogue variants have been mapped to residue 552 for KCNH2.
| KCNH2 | RLLRLVRVARKLDRY-----SEYGAAV-LF>L<LMCTFALIAHWLACIWYAIGNMEQPHMDSR | 582 |
| KCNH1 | RLLRLGRVARKLDHY-----IEYGAAV-LV>L<LVCVFGLAAHWMACIWYSIGDYEIFDEDTK | 411 |
| KCNH3 | RLLRLLRLLPRLDRY-----SQYSAVV-LT>L<LMAVFALLAHWVACVWFYIGQREIESSESE | 392 |
| KCNH4 | RLLRLLRLLQKLERY-----SQCSAVV-LT>L<LMSVFALLAHWMACIWYVIGRREMEANDPL | 394 |
| KCNH5 | RLLRLGRVARKLDHY-----LEYGAAV-LV>L<LVCVFGLVAHWLACIWYSIGDYEVIDEVTN | 381 |
| KCNH6 | RLLRLVRVARKLDRY-----SEYGAAV-LF>L<LMCTFALIAHWLACIWYAIGNVERPYLEHK | 433 |
| KCNH7 | RLLRLVRVARKLDRY-----SEYGAAV-LM>L<LMCIFALIAHWLACIWYAIGNVERPYLTDK | 584 |
| KCNH8 | RLLRLLRLLQKLDRY-----SQHSTIV-LT>L<LMSMFALLAHWMACIWYVIGKMEREDNSLL | 388 |
| CNGA1 | RFSRMFEFFQRTETR-----TNYPNIFRIS>N<LVMYIVIIIHWNACVFYSISKAIGFGND-- | 330 |
| CNGA2 | HFARMFEFFDRTETR-----TNYPNIFRIS>N<LVLYILVIIHWNACIYYAISKSIGFGVD-- | 305 |
| CNGA3 | KFSRLFEFFDRTETR-----TNYPNMFRIG>N<LVLYILIIIHWNACIYFAISKFIGFGTD-- | 333 |
| CNGA4 | RAPRLFEAFDRTETR-----TAYPNAFRIA>K<LMLYIFVVIHWNSCLYFALSRYLGFGRD-- | 199 |
| CNGB1 | KYMAFFEFNSRLESI-----LSKAYVYRVI>R<TTAYLLYSLHLNSCLYYWASAYQGLGST-- | 821 |
| CNGB3 | KYTSFFEFNHHLESI-----MDKAYIYRVI>R<TTGYLLFILHINACVYYWASNYEGIGTT-- | 383 |
| HCN1 | RLSRLIRYIHQWEEIFHMTYDLASAVVRIF>N<LIGMMLLLCHWDGCLQFLVPLLQDFPPD-- | 328 |
| HCN2 | RLSRLIRYIHQWEEIFHMTYDLASAVMRIC>N<LISMMLLLCHWDGCLQFLVPMLQDFPRN-- | 397 |
| HCN3 | RLSRLIRYIHQWEEIFHMTYDLASAVVRIF>N<LIGMMLLLCHWDGCLQFLVPMLQDFPPD-- | 281 |
| HCN4 | RLSRLIRYIHQWEEIFHMTYDLASAVVRIV>N<LIGMMLLLCHWDGCLQFLVPMLQDFPDD-- | 448 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.L552S | c.1655T>C | Inherited Arrhythmia | LQTS | rs199472918 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Sinus node function and ventricular repolarization during exercise stress test in long QT syndrome patients with KvLQT1 and HERG potassium channel defects. J Am Coll Cardiol. 1999 34(3):823-9. 10483966 | ||
| Inherited Arrhythmia | LQTS | Homozygosity for a HERG potassium channel mutation causes a severe form of long QT syndrome: identification of an apparent founder mutation in the Finns. J Am Coll Cardiol. 2000 35(7):1919-25. 10841244 | |||
| Inherited Arrhythmia | LQTS | Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation. 2000 102(10):1178-85. 10973849 | |||
| Inherited Arrhythmia | LQTS | Increased risk of arrhythmic events in long-QT syndrome with mutations in the pore region of the human ether-a-go-go-related gene potassium channel. Circulation. 2002 105(7):794-9. 11854117 | |||
| Inherited Arrhythmia | LQTS | Death in bathtub revisited with molecular genetics: a victim with suicidal traits and a LQTS gene mutation. Forensic Sci Int. 2002 130(2-3):122-4. 12477631 | |||
| Inherited Arrhythmia | LQTS | Molecular screening of selected long QT syndrome (LQTS) mutations in 165 consecutive bodies found in water. Int J Legal Med. 2003 117(2):115-7. 12690509 | |||
| Inherited Arrhythmia | LQTS | Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm. 2005 2(5):507-17. 15840476 | |||
| Inherited Arrhythmia | LQTS | High prevalence of four long QT syndrome founder mutations in the Finnish population. Ann Med. 2009 41(3):234-40. 19160088 | |||
| Inherited Arrhythmia | LQTS | Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085 | |||
| Inherited Arrhythmia | LQTS | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | |||
| Inherited Arrhythmia | LQTS | Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome. Circ Cardiovasc Genet. 2012 5(5):519-28. doi: 10.1161/CIRCGENETICS.112.963785. 22949429 | |||
| Inherited Arrhythmia | LQTS | Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome. Nat Commun. 2014 5:5535. doi: 10.1038/ncomms6535. 25417810 | |||
| Inherited Arrhythmia | LQTS | Identification of Medically Actionable Secondary Findings in the 1000 Genomes. PLoS One. 2015 10(9):e0135193. doi: 10.1371/journal.pone.0135193. 26332594 | |||