| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| CNGA3 | C319R | Cone-rod dystrophy | High | 9 | 25052312, 26355662 |
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 | Y-----SEYGAAV-LFLLMCTFALIAHWLA>C<IWYAIGNMEQPHMDSR----IGWLHNLGDQ | 592 |
| KCNH1 | Y-----IEYGAAV-LVLLVCVFGLAAHWMA>C<IWYSIGDYEIFDEDTKTIRNNSWLYQLAMD | 425 |
| KCNH3 | Y-----SQYSAVV-LTLLMAVFALLAHWVA>C<VWFYIGQREIESSESELPE-IGWLQELARR | 405 |
| KCNH4 | Y-----SQCSAVV-LTLLMSVFALLAHWMA>C<IWYVIGRREMEANDPLLWD-IGWLHELGKR | 407 |
| KCNH5 | Y-----LEYGAAV-LVLLVCVFGLVAHWLA>C<IWYSIGDYEVIDEVTNTIQIDSWLYQLALS | 395 |
| KCNH6 | Y-----SEYGAAV-LFLLMCTFALIAHWLA>C<IWYAIGNVERPYLEHK----IGWLDSLGVQ | 443 |
| KCNH7 | Y-----SEYGAAV-LMLLMCIFALIAHWLA>C<IWYAIGNVERPYLTDK----IGWLDSLGQQ | 594 |
| KCNH8 | Y-----SQHSTIV-LTLLMSMFALLAHWMA>C<IWYVIGKMEREDNSLLKWE-VGWLHELGKR | 401 |
| CNGA1 | R-----TNYPNIFRISNLVMYIVIIIHWNA>C<VFYSISKAIGFGND-------TWVYPD--- | 336 |
| CNGA2 | R-----TNYPNIFRISNLVLYILVIIHWNA>C<IYYAISKSIGFGVD-------TWVYPN--- | 311 |
| CNGA3 | R-----TNYPNMFRIGNLVLYILIIIHWNA>C<IYFAISKFIGFGTD-------SWVYPN--- | 339 |
| CNGA4 | R-----TAYPNAFRIAKLMLYIFVVIHWNS>C<LYFALSRYLGFGRD-------AWVYPD--- | 205 |
| CNGB1 | I-----LSKAYVYRVIRTTAYLLYSLHLNS>C<LYYWASAYQGLGST-------HWVYD---- | 826 |
| CNGB3 | I-----MDKAYIYRVIRTTGYLLFILHINA>C<VYYWASNYEGIGTT-------RWVYD---- | 388 |
| HCN1 | IFHMTYDLASAVVRIFNLIGMMLLLCHWDG>C<LQFLVPLLQDFPPD-------CWVS----- | 332 |
| HCN2 | IFHMTYDLASAVMRICNLISMMLLLCHWDG>C<LQFLVPMLQDFPRN-------CWVS----- | 401 |
| HCN3 | IFHMTYDLASAVVRIFNLIGMMLLLCHWDG>C<LQFLVPMLQDFPPD-------CWVS----- | 285 |
| HCN4 | IFHMTYDLASAVVRIVNLIGMMLLLCHWDG>C<LQFLVPMLQDFPDD-------CWVS----- | 452 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.C566F | c.1697G>T | Inherited Arrhythmia | LQTS | rs199472925 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Mutation site dependent variability of cardiac events in Japanese LQT2 form of congenital long-QT syndrome. Circ J. 2008 72(5):694-9. 18441445 | ||
| p.C566S | c.1697G>C | Inherited Arrhythmia | LQTS | rs199472925 | 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.C566G | c.1696T>G | Inherited Arrhythmia | LQTS | rs199473038 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Prevalence of HCM and long QT syndrome mutations in young sudden cardiac death-related cases. Int J Legal Med. 2011 125(4):565-72. 21499742 | ||
| p.C566S | c.1696T>A | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction. Eur J Hum Genet. 2016 24(8):1160-6. doi: 10.1038/ejhg.2015.257. 26669661 | ||