| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| CNGA3 | R569H | Colour-blindness, total | High | 9 | 11536077, 26493561 |
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 | DIFGEPLNLYAR------P----GKSNGDV>R<ALTYCDLHKIHRDDLLEVLDMYPEFSDHFW | 853 |
| KCNH1 | DVFGDVFWKEAT------L----AQSCANV>R<ALTYCDLHVIKRDALQKVLEFYTAFSHSFS | 692 |
| KCNH3 | DLIGCELPRREQ------V----VKANADV>K<GLTYCVLQCLQLAGLHDSLALYPEFAPRFS | 693 |
| KCNH4 | DLIGADIPEPGQEPGLGADPNFVLKTSADV>K<ALTYCGLQQLSSRGLAEVLRLYPEYGAAFR | 677 |
| KCNH5 | DVFGDIFWKETT------L----AHACANV>R<ALTYCDLHIIKREALLKVLDFYTAFANSFS | 661 |
| KCNH6 | DIFGEPVSLHAQ------P----GKSSADV>R<ALTYCDLHKIQRADLLEVLDMYPAFAESFW | 705 |
| KCNH7 | DIFGEMVHLYAK------P----GKSNADV>R<ALTYCDLHKIQREDLLEVLDMYPEFSDHFL | 856 |
| KCNH8 | DLIGANLSIKDQ------V----IKTNADV>K<ALTYCDLQCIILKGLFEVLDLYPEYAHKFV | 662 |
| CNGA1 | SYFGEISILNIKGSKA--G----NRRTANI>K<SIGYSDLFCLSKDDLMEALTEYPDAKTMLE | 596 |
| CNGA2 | SCFGEISILNIKGSKM--G----NRRTANI>R<SLGYSDLFCLSKDDLMEAVTEYPDAKKVLE | 571 |
| CNGA3 | SYFGEISILNIKGSKS--G----NRRTANI>R<SIGYSDLFCLSKDDLMEALTEYPEAKKALE | 599 |
| CNGA4 | LYFGEISIINIKGNMS--G----NRRTANI>K<SLGYSDLFCLSKEDLREVLSEYPQAQTIME | 465 |
| CNGB1 | SVFGEISLLAVGG-----G----NRRTANV>V<AHGFTNLFILDKKDLNEILVHYPESQKLLR | 1077 |
| CNGB3 | SVFGEISLLAAGG-----G----NRRTANV>V<AHGFANLLTLDKKTLQEILVHYPDSERILM | 639 |
| HCN1 | SYFGEICLLTKG------------RRTASV>R<ADTYCRLYSLSVDNFNEVLEEYPMMRRAFE | 584 |
| HCN2 | SYFGEICLLTRG------------RRTASV>R<ADTYCRLYSLSVDNFNEVLEEYPMMRRAFE | 653 |
| HCN3 | SYFGEICLLTRG------------RRTASV>R<ADTYCRLYSLSVDHFNAVLEEFPMMRRAFE | 537 |
| HCN4 | SYFGEICLLTRG------------RRTASV>R<ADTYCRLYSLSVDNFNEVLEEYPMMRRAFE | 704 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R823W | c.2467C>T | Inherited Arrhythmia | LQTS | rs199473538 | SIFT: deleterious Polyphen: probably damaging |
| Reports | 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 | Increased risk of arrhythmic events in long-QT syndrome with mutations in the pore region of the human ether-a-go-go-related gene potassium channel. Circulation. 2002 105(7):794-9. 11854117 | |||
| 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 | |||
| Inherited Arrhythmia | LQTS | [Novel mutations of potassium channel KCNQ1 S145L and KCNH2 Y475C genes in Chinese pedigrees of long QT syndrome]. Zhonghua Nei Ke Za Zhi. 2006 45(6):463-6. 16831322 | |||
| 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 | The binding site for channel blockers that rescue misprocessed human long QT syndrome type 2 ether-a-gogo-related gene (HERG) mutations. J Biol Chem. 2002 277(7):4989-98. 11741928 | |||
| Inherited Arrhythmia | LQTS | An in vivo cardiac assay to determine the functional consequences of putative long QT syndrome mutations. Circ Res. 2013 112(5):826-30. doi: 10.1161/CIRCRESAHA.112.300664. 23303164 | |||
| p.R823Q | c.2468G>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 | ||