| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| CNGA3 | F322S | Cone dystrophy | Medium | 9 | 24903488 |
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 | ---SEYGAAV-LFLLMCTFALIAHWLACIW>Y<AIGNMEQPHMDSR----IGWLHNLGDQIGK | 595 |
| KCNH1 | ---IEYGAAV-LVLLVCVFGLAAHWMACIW>Y<SIGDYEIFDEDTKTIRNNSWLYQLAMDIGT | 428 |
| KCNH3 | ---SQYSAVV-LTLLMAVFALLAHWVACVW>F<YIGQREIESSESELPE-IGWLQELARRLET | 408 |
| KCNH4 | ---SQCSAVV-LTLLMSVFALLAHWMACIW>Y<VIGRREMEANDPLLWD-IGWLHELGKRLEV | 410 |
| KCNH5 | ---LEYGAAV-LVLLVCVFGLVAHWLACIW>Y<SIGDYEVIDEVTNTIQIDSWLYQLALSIGT | 398 |
| KCNH6 | ---SEYGAAV-LFLLMCTFALIAHWLACIW>Y<AIGNVERPYLEHK----IGWLDSLGVQLGK | 446 |
| KCNH7 | ---SEYGAAV-LMLLMCIFALIAHWLACIW>Y<AIGNVERPYLTDK----IGWLDSLGQQIGK | 597 |
| KCNH8 | ---SQHSTIV-LTLLMSMFALLAHWMACIW>Y<VIGKMEREDNSLLKWE-VGWLHELGKRLES | 404 |
| CNGA1 | ---TNYPNIFRISNLVMYIVIIIHWNACVF>Y<SISKAIGFGND-------TWVYPD---IND | 339 |
| CNGA2 | ---TNYPNIFRISNLVLYILVIIHWNACIY>Y<AISKSIGFGVD-------TWVYPN---ITD | 314 |
| CNGA3 | ---TNYPNMFRIGNLVLYILIIIHWNACIY>F<AISKFIGFGTD-------SWVYPN---ISI | 342 |
| CNGA4 | ---TAYPNAFRIAKLMLYIFVVIHWNSCLY>F<ALSRYLGFGRD-------AWVYPD---PAQ | 208 |
| CNGB1 | ---LSKAYVYRVIRTTAYLLYSLHLNSCLY>Y<WASAYQGLGST-------HWVYD------- | 826 |
| CNGB3 | ---MDKAYIYRVIRTTGYLLFILHINACVY>Y<WASNYEGIGTT-------RWVYD------- | 388 |
| HCN1 | MTYDLASAVVRIFNLIGMMLLLCHWDGCLQ>F<LVPLLQDFPPD-------CWVS-----LNE | 335 |
| HCN2 | MTYDLASAVMRICNLISMMLLLCHWDGCLQ>F<LVPMLQDFPRN-------CWVS-----ING | 404 |
| HCN3 | MTYDLASAVVRIFNLIGMMLLLCHWDGCLQ>F<LVPMLQDFPPD-------CWVS-----INH | 288 |
| HCN4 | MTYDLASAVVRIVNLIGMMLLLCHWDGCLQ>F<LVPMLQDFPDD-------CWVS-----INN | 455 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.Y569H | c.1705T>C | Inherited Arrhythmia | LQTS | rs199473520 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Sinus node function and ventricular repolarization during exercise stress test in long QT syndrome patients with KvLQT1 and HERG potassium channel defects. J Am Coll Cardiol. 1999 34(3):823-9. 10483966 | ||
| Inherited Arrhythmia | LQTS | Survey of the coding region of the HERG gene in long QT syndrome reveals six novel mutations and an amino acid polymorphism with possible phenotypic effects. Hum Mutat. 2000 15(6):580-1. 10862094 | |||
| 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.Y569C | c.1706A>G | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing. BMC Cardiovasc Disord. 2012 12:95. doi: 10.1186/1471-2261-12-95. 23098067 | ||