No paralogue variants have been mapped to residue 784 for KCNH2.
| KCNH2 | LAMKFKTTHAPPGDTLVHAGDLLTALYFIS>R<GSIEILRG-D--V--VVAILGKNDIFGEPL | 809 |
| KCNH1 | LAMEFQTVHCAPGDLIYHAGESVDSLCFVV>S<GSLEVIQD-D--E--VVAILGKGDVFGDVF | 648 |
| KCNH3 | LSLALRPAFCTPGEYLIHQGDALQALYFVC>S<GSMEVLKG-G--T--VLAILGKGDLIGCEL | 649 |
| KCNH4 | LSLHIKTSFCAPGEYLLRRGDALQAHYYVC>S<GSLEVLRD-N--M--VLAILGKGDLIGADI | 623 |
| KCNH5 | LAVEFQTIHCAPGDLIYHAGESVDALCFVV>S<GSLEVIQD-D--E--VVAILGKGDVFGDIF | 617 |
| KCNH6 | LAVKFKTTHAPPGDTLVHLGDVLSTLYFIS>R<GSIEILRD-D--V--VVAILGKNDIFGEPV | 661 |
| KCNH7 | LAMKFKTTHAPPGDTLVHCGDVLTALYFLS>R<GSIEILKD-D--I--VVAILGKNDIFGEMV | 812 |
| KCNH8 | LSLHIKTSFCAPGEYLLRQGDALQAIYFVC>S<GSMEVLKD-S--M--VLAILGKGDLIGANL | 618 |
| CNGA1 | LVLKLQPQVYSPGDYICKKGDIGREMYIIK>E<GKLAVVAD-D--GVTQFVVLSDGSYFGEIS | 548 |
| CNGA2 | LVLKLRPQVFSPGDYICRKGDIGKEMYIIK>E<GKLAVVAD-D--GVTQYALLSAGSCFGEIS | 523 |
| CNGA3 | LVLKLRPTVFSPGDYICKKGDIGKEMYIIN>E<GKLAVVAD-D--GVTQFVVLSDGSYFGEIS | 551 |
| CNGA4 | LVLKLQPQTYSPGEYVCRKGDIGQEMYIIR>E<GQLAVVAD-D--GITQYAVLGAGLYFGEIS | 417 |
| CNGB1 | MLKRLRSVVYLPNDYVCKKGEIGREMYIIQ>A<GQVQVLGGPDGKS--VLVTLKAGSVFGEIS | 1032 |
| CNGB3 | MLLRLKSVLYLPGDFVCKKGEIGKEMYIIK>H<GEVQVLGGPDGTK--VLVTLKAGSVFGEIS | 594 |
| HCN1 | MLSKLRFEVFQPGDYIIREGAVGKKMYFIQ>H<GVAGVITK-S--S--KEMKLTDGSYFGEIC | 542 |
| HCN2 | MLTKLKFEVFQPGDYIIREGTIGKKMYFIQ>H<GVVSVLTK-G--N--KEMKLSDGSYFGEIC | 611 |
| HCN3 | VLTKLRFEVFQPGDLVVREGSVGRKMYFIQ>H<GLLSVLAR-G--A--RDTRLTDGSYFGEIC | 495 |
| HCN4 | MLTKLRFEVFQPGDYIIREGTIGKKMYFIQ>H<GVVSVLTK-G--N--KETKLADGSYFGEIC | 662 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R784W | c.2350C>T | Inherited Arrhythmia | LQTS | rs12720441 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Other Cardiac Phenotype | Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes. Circulation. 2002 105(16):1943-8. 11997281 | |||
| Inherited Arrhythmia | LQTS | Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients. J Mol Med (Berl). 2004 82(3):182-8. 14760488 | |||
| 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 | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | |||
| Other Cardiac Phenotype | 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 | ||||
| Other Cardiac Phenotype | 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 | ||||
| p.R784Q | c.2351G>A | Putative Benign | rs149588350 | SIFT: deleterious Polyphen: probably damaging | |
| p.R784G | c.2350C>G | Putative Benign | rs12720441 | SIFT: deleterious Polyphen: possibly damaging | |