| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| CNGA3 | S341P | Colour-blindness, total | Medium | 5 | 11536077, 20506298 |
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 | WYAIGNMEQPHMDSR----IGWLHNLGDQI>G<KPYNSS----------G------------- | 601 |
| KCNH1 | WYSIGDYEIFDEDTKTIRNNSWLYQLAMDI>G<TPYQFN--------GSG-----------S- | 437 |
| KCNH3 | WFYIGQREIESSESELPE-IGWLQELARRL>E<TPYYLVGRRPAGGNSSGQSDNCSSSSEANG | 437 |
| KCNH4 | WYVIGRREMEANDPLLWD-IGWLHELGKRL>E<VPYVNG------------------------ | 415 |
| KCNH5 | WYSIGDYEVIDEVTNTIQIDSWLYQLALSI>G<TPYRYN--------T-S-----------A- | 406 |
| KCNH6 | WYAIGNVERPYLEHK----IGWLDSLGVQL>G<KRYNGS----------D-----------P- | 453 |
| KCNH7 | WYAIGNVERPYLTDK----IGWLDSLGQQI>G<KRYNDS----------D-----------S- | 604 |
| KCNH8 | WYVIGKMEREDNSLLKWE-VGWLHELGKRL>E<SPYYGNN----------------------- | 410 |
| CNGA1 | FYSISKAIGFGND-------TWVYPD---I>N<DP---------------------------- | 340 |
| CNGA2 | YYAISKSIGFGVD-------TWVYPN---I>T<DP---------------------------- | 315 |
| CNGA3 | YFAISKFIGFGTD-------SWVYPN---I>S<IP---------------------------- | 343 |
| CNGA4 | YFALSRYLGFGRD-------AWVYPD---P>A<QP---------------------------- | 209 |
| CNGB1 | YYWASAYQGLGST-------HWVYD----->-<------------------------------ | 826 |
| CNGB3 | YYWASNYEGIGTT-------RWVYD----->-<------------------------------ | 388 |
| HCN1 | QFLVPLLQDFPPD-------CWVS-----L>N<EM---------------------------- | 336 |
| HCN2 | QFLVPMLQDFPRN-------CWVS-----I>N<GM---------------------------- | 405 |
| HCN3 | QFLVPMLQDFPPD-------CWVS-----I>N<HM---------------------------- | 289 |
| HCN4 | QFLVPMLQDFPDD-------CWVS-----I>N<NM---------------------------- | 456 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.G594D | c.1781G>A | Inherited Arrhythmia | LQTS | rs199472931 | SIFT: deleterious Polyphen: possibly 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 | 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 | |||