| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| CNGA3 | G397V | Achromatopsia | High | 9 | 18636117 |
| KCNH1 | G496R | Zimmermann-Laband syndrome | High | 9 | 25915598, 25915598 |
| KCNH1 | G496E | Hypotonia, seizures and developmental delay | High | 9 | 26818738 |
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 | FGNVSPNTNSEKIFSICVMLIGSLMYASIF>G<NVSAIIQRLYSGTARYHTQMLRVREFIRFH | 687 |
| KCNH1 | FGNIAPSTDIEKIFAVAIMMIGSLLYATIF>G<NVTTIFQQMYANTNRYHEMLNSVRDFLKLY | 526 |
| KCNH3 | FGNVSANTDTEKIFSICTMLIGALMHAVVF>G<NVTAIIQRMYARRFLYHSRTRDLRDYIRIH | 528 |
| KCNH4 | FGNVCANTDAEKIFSICTMLIGALMHAVVF>G<NVTAIIQRMYSRRSLYHSRMKDLKDFIRVH | 502 |
| KCNH5 | FGNIAPTTDVEKMFSVAMMMVGSLLYATIF>G<NVTTIFQQMYANTNRYHEMLNNVRDFLKLY | 495 |
| KCNH6 | FGNVSPNTNSEKVFSICVMLIGSLMYASIF>G<NVSAIIQRLYSGTARYHTQMLRVKEFIRFH | 539 |
| KCNH7 | FGNVSPNTNSEKIFSICVMLIGSLMYASIF>G<NVSAIIQRLYSGTARYHMQMLRVKEFIRFH | 690 |
| KCNH8 | FGNVSANTDAEKIFSICTMLIGALMHALVF>G<NVTAIIQRMYSRWSLYHTRTKDLKDFIRVH | 497 |
| CNGA1 | -ETPPPVRDSEYVFVVVDFLIGVLIFATIV>G<NIGSMISNMNAARAEFQARIDAIKQYMHFR | 424 |
| CNGA2 | -ETPPPVKDEEYLFVIFDFLIGVLIFATIV>G<NVGSMISNMNATRAEFQAKIDAVKHYMQFR | 399 |
| CNGA3 | -ETPPPVKDEEYLFVVVDFLVGVLIFATIV>G<NVGSMISNMNASRAEFQAKIDSIKQYMQFR | 427 |
| CNGA4 | -DTPPPAREEEYLFMVGDFLLAVMGFATIM>G<SMSSVIYNMNTADAAFYPDHALVKKYMKLQ | 293 |
| CNGB1 | -GLPDPKTLFEIVFQLLNYFTGVFAFSVMI>G<QMRDVVGAATAGQTYYRSCMDSTVKYMNFY | 907 |
| CNGB3 | -GLPEPQTLFEIVFQLLNFFSGVFVFSSLI>G<QMRDVIGAATANQNYFRACMDDTIAYMNNY | 469 |
| HCN1 | YGAQAPVSMSDLWITMLSMIVGATCYAMFV>G<HATALIQSLDSSRRQYQEKYKQVEQYMSFH | 421 |
| HCN2 | YGRQAPESMTDIWLTMLSMIVGATCYAMFI>G<HATALIQSLDSSRRQYQEKYKQVEQYMSFH | 490 |
| HCN3 | YGQQAPVGMPDVWLTMLSMIVGATCYAMFI>G<HATALIQSLDSSRRQYQEKYKQVEQYMSFH | 374 |
| HCN4 | YGRQAPVGMSDVWLTMLSMIVGATCYAMFI>G<HATALIQSLDSSRRQYQEKYKQVEQYMSFH | 541 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.G657C | c.1969G>T | Inherited Arrhythmia | LQTS | rs199472978 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | [DNA-based diagnostics of long QT syndrome]. Tidsskr Nor Laegeforen. 2005 125(20):2783-6. 16244680 | ||
| Inherited Arrhythmia | LQTS | Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers. Scand J Clin Lab Invest. 2008 68(5):362-8. 18752142 | |||
| Inherited Arrhythmia | LQTS | The genetic basis of long QT and short QT syndromes: a mutation update. Hum Mutat. 2009 30(11):1486-511. 19862833 | |||
| p.G657R | c.1969G>C | Inherited Arrhythmia | LQTS | rs199472978 | SIFT: deleterious Polyphen: probably damaging |
| Reports | 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 | |||
| p.G657S | c.1969G>A | Inherited Arrhythmia | LQTS | rs199472978 | SIFT: deleterious Polyphen: probably damaging |
| Reports | 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 | ||