| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| CNGA3 | I353T | Achromatopsia | Medium | 8 | 25637600 |
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 | -G------------------LGGPSIKDKY>V<TALYFTFSSLTSVGFGNVSPNTNSEKIFSI | 642 |
| KCNH1 | SG-----------S--GK-WEGGPSKNSVY>I<SSLYFTMTSLTSVGFGNIAPSTDIEKIFAV | 481 |
| KCNH3 | SGQSDNCSSSSEANGTGLELLGGPSLRSAY>I<TSLYFALSSLTSVGFGNVSANTDTEKIFSI | 483 |
| KCNH4 | -------------------SVGGPSRRSAY>I<AALYFTLSSLTSVGFGNVCANTDAEKIFSI | 457 |
| KCNH5 | -S-----------A--GI-WEGGPSKDSLY>V<SSLYFTMTSLTTIGFGNIAPTTDVEKMFSV | 450 |
| KCNH6 | -D-----------P------ASGPSVQDKY>V<TALYFTFSSLTSVGFGNVSPNTNSEKVFSI | 494 |
| KCNH7 | -D-----------S------SSGPSIKDKY>V<TALYFTFSSLTSVGFGNVSPNTNSEKIFSI | 645 |
| KCNH8 | -------------------TLGGPSIRSAY>I<AALYFTLSSLTSVGFGNVSANTDAEKIFSI | 452 |
| CNGA1 | ---------------------EFGRLARKY>V<YSLYWSTLTLTTIG-ETPPPVRDSEYVFVV | 379 |
| CNGA2 | ---------------------EYGYLAREY>I<YCLYWSTLTLTTIG-ETPPPVKDEEYLFVI | 354 |
| CNGA3 | ---------------------EHGRLSRKY>I<YSLYWSTLTLTTIG-ETPPPVKDEEYLFVV | 382 |
| CNGA4 | ---------------------GFERLRRQY>L<YSFYFSTLILTTVG-DTPPPAREEEYLFMV | 248 |
| CNGB1 | ------------------------GVGNSY>I<RCYYFAVKTLITIG-GLPDPKTLFEIVFQL | 862 |
| CNGB3 | ------------------------GEGNEY>L<RCYYWAVRTLITIG-GLPEPQTLFEIVFQL | 424 |
| HCN1 | ---------------------VNDSWGKQY>S<YALFKAMSHMLCIGYGAQAPVSMSDLWITM | 376 |
| HCN2 | ---------------------VNHSWSELY>S<FALFKAMSHMLCIGYGRQAPESMTDIWLTM | 445 |
| HCN3 | ---------------------VNHSWGRQY>S<HALFKAMSHMLCIGYGQQAPVGMPDVWLTM | 329 |
| HCN4 | ---------------------VNNSWGKQY>S<YALFKAMSHMLCIGYGRQAPVGMSDVWLTM | 496 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.V612L | c.1834G>T | Inherited Arrhythmia | LQTS | rs199472943 | SIFT: tolerated Polyphen: benign |
| Reports | Inherited Arrhythmia | LQTS | Multiple different missense mutations in the pore region of HERG in patients with long QT syndrome. Hum Genet. 1998 102(3):265-72. 9544837 | ||
| 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 | |||
| p.V612M | c.1834G>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 | ||