No paralogue variants have been mapped to residue 788 for KCNH2.
| KCNH2 | FKTTHAPPGDTLVHAGDLLTALYFISRGSI>E<ILRG-D--V--VVAILGKNDIFGEPLNLYA | 813 |
| KCNH1 | FQTVHCAPGDLIYHAGESVDSLCFVVSGSL>E<VIQD-D--E--VVAILGKGDVFGDVFWKEA | 652 |
| KCNH3 | LRPAFCTPGEYLIHQGDALQALYFVCSGSM>E<VLKG-G--T--VLAILGKGDLIGCELPRRE | 653 |
| KCNH4 | IKTSFCAPGEYLLRRGDALQAHYYVCSGSL>E<VLRD-N--M--VLAILGKGDLIGADIPEPG | 627 |
| KCNH5 | FQTIHCAPGDLIYHAGESVDALCFVVSGSL>E<VIQD-D--E--VVAILGKGDVFGDIFWKET | 621 |
| KCNH6 | FKTTHAPPGDTLVHLGDVLSTLYFISRGSI>E<ILRD-D--V--VVAILGKNDIFGEPVSLHA | 665 |
| KCNH7 | FKTTHAPPGDTLVHCGDVLTALYFLSRGSI>E<ILKD-D--I--VVAILGKNDIFGEMVHLYA | 816 |
| KCNH8 | IKTSFCAPGEYLLRQGDALQAIYFVCSGSM>E<VLKD-S--M--VLAILGKGDLIGANLSIKD | 622 |
| CNGA1 | LQPQVYSPGDYICKKGDIGREMYIIKEGKL>A<VVAD-D--GVTQFVVLSDGSYFGEISILNI | 552 |
| CNGA2 | LRPQVFSPGDYICRKGDIGKEMYIIKEGKL>A<VVAD-D--GVTQYALLSAGSCFGEISILNI | 527 |
| CNGA3 | LRPTVFSPGDYICKKGDIGKEMYIINEGKL>A<VVAD-D--GVTQFVVLSDGSYFGEISILNI | 555 |
| CNGA4 | LQPQTYSPGEYVCRKGDIGQEMYIIREGQL>A<VVAD-D--GITQYAVLGAGLYFGEISIINI | 421 |
| CNGB1 | LRSVVYLPNDYVCKKGEIGREMYIIQAGQV>Q<VLGGPDGKS--VLVTLKAGSVFGEISLLAV | 1036 |
| CNGB3 | LKSVLYLPGDFVCKKGEIGKEMYIIKHGEV>Q<VLGGPDGTK--VLVTLKAGSVFGEISLLAA | 598 |
| HCN1 | LRFEVFQPGDYIIREGAVGKKMYFIQHGVA>G<VITK-S--S--KEMKLTDGSYFGEICLLTK | 546 |
| HCN2 | LKFEVFQPGDYIIREGTIGKKMYFIQHGVV>S<VLTK-G--N--KEMKLSDGSYFGEICLLTR | 615 |
| HCN3 | LRFEVFQPGDLVVREGSVGRKMYFIQHGLL>S<VLAR-G--A--RDTRLTDGSYFGEICLLTR | 499 |
| HCN4 | LRFEVFQPGDYIIREGTIGKKMYFIQHGVV>S<VLTK-G--N--KETKLADGSYFGEICLLTR | 666 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.E788D | c.2364G>C | Inherited Arrhythmia | LQTS | rs199473535 | SIFT: deleterious Polyphen: probably damaging |
| Reports | 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 | |||
| 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 | |||
| p.E788K | c.2362G>A | Inherited Arrhythmia | LQTS | rs199472997 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Clinical and genetic analysis of long QT syndrome in children from six families in Saudi Arabia: are they different? Pediatr Cardiol. 2009 30(4):490-501. 19184172 | ||
| 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 | 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 | |||