| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| CNGB3 | R403Q | Progressive cone dystrophy | Medium | 9 | 15161866, 22995991, 22975760, 16379026, 24504161 |
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 | ------------LGGPSIKDKYVTALYFTF>S<SLTSVGFGNVSPNTNSEKIFSICVMLIGSL | 650 |
| KCNH1 | -----S--GK-WEGGPSKNSVYISSLYFTM>T<SLTSVGFGNIAPSTDIEKIFAVAIMMIGSL | 489 |
| KCNH3 | SSSEANGTGLELLGGPSLRSAYITSLYFAL>S<SLTSVGFGNVSANTDTEKIFSICTMLIGAL | 491 |
| KCNH4 | -----------SVGGPSRRSAYIAALYFTL>S<SLTSVGFGNVCANTDAEKIFSICTMLIGAL | 465 |
| KCNH5 | -----A--GI-WEGGPSKDSLYVSSLYFTM>T<SLTTIGFGNIAPTTDVEKMFSVAMMMVGSL | 458 |
| KCNH6 | -----P------ASGPSVQDKYVTALYFTF>S<SLTSVGFGNVSPNTNSEKVFSICVMLIGSL | 502 |
| KCNH7 | -----S------SSGPSIKDKYVTALYFTF>S<SLTSVGFGNVSPNTNSEKIFSICVMLIGSL | 653 |
| KCNH8 | -----------TLGGPSIRSAYIAALYFTL>S<SLTSVGFGNVSANTDAEKIFSICTMLIGAL | 460 |
| CNGA1 | -------------EFGRLARKYVYSLYWST>L<TLTTIG-ETPPPVRDSEYVFVVVDFLIGVL | 387 |
| CNGA2 | -------------EYGYLAREYIYCLYWST>L<TLTTIG-ETPPPVKDEEYLFVIFDFLIGVL | 362 |
| CNGA3 | -------------EHGRLSRKYIYSLYWST>L<TLTTIG-ETPPPVKDEEYLFVVVDFLVGVL | 390 |
| CNGA4 | -------------GFERLRRQYLYSFYFST>L<ILTTVG-DTPPPAREEEYLFMVGDFLLAVM | 256 |
| CNGB1 | ----------------GVGNSYIRCYYFAV>K<TLITIG-GLPDPKTLFEIVFQLLNYFTGVF | 870 |
| CNGB3 | ----------------GEGNEYLRCYYWAV>R<TLITIG-GLPEPQTLFEIVFQLLNFFSGVF | 432 |
| HCN1 | -------------VNDSWGKQYSYALFKAM>S<HMLCIGYGAQAPVSMSDLWITMLSMIVGAT | 384 |
| HCN2 | -------------VNHSWSELYSFALFKAM>S<HMLCIGYGRQAPESMTDIWLTMLSMIVGAT | 453 |
| HCN3 | -------------VNHSWGRQYSHALFKAM>S<HMLCIGYGQQAPVGMPDVWLTMLSMIVGAT | 337 |
| HCN4 | -------------VNNSWGKQYSYALFKAM>S<HMLCIGYGRQAPVGMSDVWLTMLSMIVGAT | 504 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.S620N | c.1859G>A | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. Genet Test Mol Biomarkers. 2013 17(7):553-61. doi: 10.1089/gtmb.2012.0118. 23631430 | ||
| p.S620G | c.1858A>G | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | High incidence of functional ion-channel abnormalities in a consecutive Long QT cohort with novel missense genetic variants of unknown significance. Sci Rep. 2015 5:10009. doi: 10.1038/srep10009. 26066609 | ||