| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| CNGA3 | F547L | Colour-blindness, total | High | 9 | 9662398, 20088482, 23972307 |
| CNGA3 | F547C | Achromatopsia | High | 9 | 25616768 |
To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in KCNH2.
| KCNH2 | YFISRGSIEILRG-D--V--VVAILGKNDI>F<GEPLNLYAR------P----GKSNGDVRAL | 825 |
| KCNH1 | CFVVSGSLEVIQD-D--E--VVAILGKGDV>F<GDVFWKEAT------L----AQSCANVRAL | 664 |
| KCNH3 | YFVCSGSMEVLKG-G--T--VLAILGKGDL>I<GCELPRREQ------V----VKANADVKGL | 665 |
| KCNH4 | YYVCSGSLEVLRD-N--M--VLAILGKGDL>I<GADIPEPGQEPGLGADPNFVLKTSADVKAL | 649 |
| KCNH5 | CFVVSGSLEVIQD-D--E--VVAILGKGDV>F<GDIFWKETT------L----AHACANVRAL | 633 |
| KCNH6 | YFISRGSIEILRD-D--V--VVAILGKNDI>F<GEPVSLHAQ------P----GKSSADVRAL | 677 |
| KCNH7 | YFLSRGSIEILKD-D--I--VVAILGKNDI>F<GEMVHLYAK------P----GKSNADVRAL | 828 |
| KCNH8 | YFVCSGSMEVLKD-S--M--VLAILGKGDL>I<GANLSIKDQ------V----IKTNADVKAL | 634 |
| CNGA1 | YIIKEGKLAVVAD-D--GVTQFVVLSDGSY>F<GEISILNIKGSKA--G----NRRTANIKSI | 568 |
| CNGA2 | YIIKEGKLAVVAD-D--GVTQYALLSAGSC>F<GEISILNIKGSKM--G----NRRTANIRSL | 543 |
| CNGA3 | YIINEGKLAVVAD-D--GVTQFVVLSDGSY>F<GEISILNIKGSKS--G----NRRTANIRSI | 571 |
| CNGA4 | YIIREGQLAVVAD-D--GITQYAVLGAGLY>F<GEISIINIKGNMS--G----NRRTANIKSL | 437 |
| CNGB1 | YIIQAGQVQVLGGPDGKS--VLVTLKAGSV>F<GEISLLAVGG-----G----NRRTANVVAH | 1049 |
| CNGB3 | YIIKHGEVQVLGGPDGTK--VLVTLKAGSV>F<GEISLLAAGG-----G----NRRTANVVAH | 611 |
| HCN1 | YFIQHGVAGVITK-S--S--KEMKLTDGSY>F<GEICLLTKG------------RRTASVRAD | 556 |
| HCN2 | YFIQHGVVSVLTK-G--N--KEMKLSDGSY>F<GEICLLTRG------------RRTASVRAD | 625 |
| HCN3 | YFIQHGLLSVLAR-G--A--RDTRLTDGSY>F<GEICLLTRG------------RRTASVRAD | 509 |
| HCN4 | YFIQHGVVSVLTK-G--N--KETKLADGSY>F<GEICLLTRG------------RRTASVRAD | 676 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.F805C | c.2414T>G | Inherited Arrhythmia | LQTS | rs199472999 | SIFT: deleterious Polyphen: probably damaging |
| Reports | 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 | 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 | Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism. Circulation. 2006 113(3):365-73. 16432067 | |||
| Inherited Arrhythmia | LQTS | C101, a novel 4-amino-piperidine derivative selectively blocks N-type calcium channels. Eur J Pharmacol. 2008 587(1-3):42-7. 18468596 | |||
| Inherited Arrhythmia | LQTS | The binding site for channel blockers that rescue misprocessed human long QT syndrome type 2 ether-a-gogo-related gene (HERG) mutations. J Biol Chem. 2002 277(7):4989-98. 11741928 | |||
| Inherited Arrhythmia | LQTS | An in vivo cardiac assay to determine the functional consequences of putative long QT syndrome mutations. Circ Res. 2013 112(5):826-30. doi: 10.1161/CIRCRESAHA.112.300664. 23303164 | |||
| p.F805S | c.2414T>C | Inherited Arrhythmia | LQTS | rs199472999 | SIFT: deleterious Polyphen: probably damaging |
| Reports | 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 | 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 | |||