| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| CNGA3 | G367V | Achromatopsia | High | 9 | 20506298 |
| CNGA1 | G364D | Retinitis pigmentosa | High | 9 | 25775262 |
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 | ------LGGPSIKDKYVTALYFTFSSLTSV>G<FGNVSPNTNSEKIFSICVMLIGSLMYASIF | 656 |
| KCNH1 | --GK-WEGGPSKNSVYISSLYFTMTSLTSV>G<FGNIAPSTDIEKIFAVAIMMIGSLLYATIF | 495 |
| KCNH3 | GTGLELLGGPSLRSAYITSLYFALSSLTSV>G<FGNVSANTDTEKIFSICTMLIGALMHAVVF | 497 |
| KCNH4 | -----SVGGPSRRSAYIAALYFTLSSLTSV>G<FGNVCANTDAEKIFSICTMLIGALMHAVVF | 471 |
| KCNH5 | --GI-WEGGPSKDSLYVSSLYFTMTSLTTI>G<FGNIAPTTDVEKMFSVAMMMVGSLLYATIF | 464 |
| KCNH6 | ------ASGPSVQDKYVTALYFTFSSLTSV>G<FGNVSPNTNSEKVFSICVMLIGSLMYASIF | 508 |
| KCNH7 | ------SSGPSIKDKYVTALYFTFSSLTSV>G<FGNVSPNTNSEKIFSICVMLIGSLMYASIF | 659 |
| KCNH8 | -----TLGGPSIRSAYIAALYFTLSSLTSV>G<FGNVSANTDAEKIFSICTMLIGALMHALVF | 466 |
| CNGA1 | -------EFGRLARKYVYSLYWSTLTLTTI>G<-ETPPPVRDSEYVFVVVDFLIGVLIFATIV | 393 |
| CNGA2 | -------EYGYLAREYIYCLYWSTLTLTTI>G<-ETPPPVKDEEYLFVIFDFLIGVLIFATIV | 368 |
| CNGA3 | -------EHGRLSRKYIYSLYWSTLTLTTI>G<-ETPPPVKDEEYLFVVVDFLVGVLIFATIV | 396 |
| CNGA4 | -------GFERLRRQYLYSFYFSTLILTTV>G<-DTPPPAREEEYLFMVGDFLLAVMGFATIM | 262 |
| CNGB1 | ----------GVGNSYIRCYYFAVKTLITI>G<-GLPDPKTLFEIVFQLLNYFTGVFAFSVMI | 876 |
| CNGB3 | ----------GEGNEYLRCYYWAVRTLITI>G<-GLPEPQTLFEIVFQLLNFFSGVFVFSSLI | 438 |
| HCN1 | -------VNDSWGKQYSYALFKAMSHMLCI>G<YGAQAPVSMSDLWITMLSMIVGATCYAMFV | 390 |
| HCN2 | -------VNHSWSELYSFALFKAMSHMLCI>G<YGRQAPESMTDIWLTMLSMIVGATCYAMFI | 459 |
| HCN3 | -------VNHSWGRQYSHALFKAMSHMLCI>G<YGQQAPVGMPDVWLTMLSMIVGATCYAMFI | 343 |
| HCN4 | -------VNNSWGKQYSYALFKAMSHMLCI>G<YGRQAPVGMSDVWLTMLSMIVGATCYAMFI | 510 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.G626A | c.1877G>C | Inherited Arrhythmia | LQTS | rs199472952 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. JAMA. 2005 294(23):2975-80. 16414944 | ||
| 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.G626D | c.1877G>A | Inherited Arrhythmia | LQTS | rs199472952 | 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.G626S | c.1876G>A | Inherited Arrhythmia | LQTS | rs199472953 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | New missense mutation (G626V) in the predicted selectivity filter of the HERG channel associated with familial long QT syndrome. Hum Mutat. 2000 15(6):584. 10862104 | ||
| 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 | |||
| p.G626V | c.1877G>T | Inherited Arrhythmia | LQTS | rs199472952 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | New missense mutation (G626V) in the predicted selectivity filter of the HERG channel associated with familial long QT syndrome. Hum Mutat. 2000 15(6):584. 10862104 | ||
| 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 | |||