| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| CNGA3 | F380S | Colour-blindness, total | High | 9 | 11536077 |
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 | KYVTALYFTFSSLTSVGFGNVSPNTNSEKI>F<SICVMLIGSLMYASIFGNVSAIIQRLYSGT | 670 |
| KCNH1 | VYISSLYFTMTSLTSVGFGNIAPSTDIEKI>F<AVAIMMIGSLLYATIFGNVTTIFQQMYANT | 509 |
| KCNH3 | AYITSLYFALSSLTSVGFGNVSANTDTEKI>F<SICTMLIGALMHAVVFGNVTAIIQRMYARR | 511 |
| KCNH4 | AYIAALYFTLSSLTSVGFGNVCANTDAEKI>F<SICTMLIGALMHAVVFGNVTAIIQRMYSRR | 485 |
| KCNH5 | LYVSSLYFTMTSLTTIGFGNIAPTTDVEKM>F<SVAMMMVGSLLYATIFGNVTTIFQQMYANT | 478 |
| KCNH6 | KYVTALYFTFSSLTSVGFGNVSPNTNSEKV>F<SICVMLIGSLMYASIFGNVSAIIQRLYSGT | 522 |
| KCNH7 | KYVTALYFTFSSLTSVGFGNVSPNTNSEKI>F<SICVMLIGSLMYASIFGNVSAIIQRLYSGT | 673 |
| KCNH8 | AYIAALYFTLSSLTSVGFGNVSANTDAEKI>F<SICTMLIGALMHALVFGNVTAIIQRMYSRW | 480 |
| CNGA1 | KYVYSLYWSTLTLTTIG-ETPPPVRDSEYV>F<VVVDFLIGVLIFATIVGNIGSMISNMNAAR | 407 |
| CNGA2 | EYIYCLYWSTLTLTTIG-ETPPPVKDEEYL>F<VIFDFLIGVLIFATIVGNVGSMISNMNATR | 382 |
| CNGA3 | KYIYSLYWSTLTLTTIG-ETPPPVKDEEYL>F<VVVDFLVGVLIFATIVGNVGSMISNMNASR | 410 |
| CNGA4 | QYLYSFYFSTLILTTVG-DTPPPAREEEYL>F<MVGDFLLAVMGFATIMGSMSSVIYNMNTAD | 276 |
| CNGB1 | SYIRCYYFAVKTLITIG-GLPDPKTLFEIV>F<QLLNYFTGVFAFSVMIGQMRDVVGAATAGQ | 890 |
| CNGB3 | EYLRCYYWAVRTLITIG-GLPEPQTLFEIV>F<QLLNFFSGVFVFSSLIGQMRDVIGAATANQ | 452 |
| HCN1 | QYSYALFKAMSHMLCIGYGAQAPVSMSDLW>I<TMLSMIVGATCYAMFVGHATALIQSLDSSR | 404 |
| HCN2 | LYSFALFKAMSHMLCIGYGRQAPESMTDIW>L<TMLSMIVGATCYAMFIGHATALIQSLDSSR | 473 |
| HCN3 | QYSHALFKAMSHMLCIGYGQQAPVGMPDVW>L<TMLSMIVGATCYAMFIGHATALIQSLDSSR | 357 |
| HCN4 | QYSYALFKAMSHMLCIGYGRQAPVGMSDVW>L<TMLSMIVGATCYAMFIGHATALIQSLDSSR | 524 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.F640L | c.1920C>A | Inherited Arrhythmia | LQTS | rs199472970 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Novel KCNQ1 and HERG missense mutations in Dutch long-QT families. Hum Mutat. 1999 13(4):301-10. 10220144 | ||
| Inherited Arrhythmia | LQTS | The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome. J Med Genet. 2003 40(2):141-5. 12566525 | |||
| 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.F640V | c.1918T>G | Inherited Arrhythmia | LQTS | rs199473529 | 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 | 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 | 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 | 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.Phe640Leu | c.1918T>C | Unknown | SIFT: Polyphen: | ||