| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| CNGA3 | D252N | Achromatopsia | High | 9 | 18445228 |
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 | TTYVN-ANEEVVSHPGRIAVHYFKGW-FLI>D<MVAAIPFDLLIFGSGSEE------------ | 519 |
| KCNH1 | TTFVG-PAGEVISDPKLIRMNYLKTW-FVI>D<LLSCLPYDVINAFENVDEVSAFMGDPGKIG | 329 |
| KCNH3 | TTFVS-KSGQVVFAPKSICLHYVTTW-FLL>D<VIAALPFDLLHAF-KVN------------- | 326 |
| KCNH4 | TTYVS-QSGQVISAPRSIGLHYLATW-FFI>D<LIAALPFDLLYIF-NIT------------- | 328 |
| KCNH5 | TTFVG-PGGEVISDPKLIRMNYLKTW-FVI>D<LLSCLPYDIINAFENVDEG----------- | 315 |
| KCNH6 | TTYVN-TNDEVVSHPRRIAVHYFKGW-FLI>D<MVAAIPFDLLIFRTGSDE------------ | 367 |
| KCNH7 | TTYVN-QNEEVVSDPAKIAIHYFKGW-FLI>D<MVAAIPFDLLIFGSGSDE------------ | 518 |
| KCNH8 | TTYVS-KSGQVIFEARSICIHYVTTW-FII>D<LIAALPFDLLYAF-NVT------------- | 322 |
| CNGA1 | TGYLE--QGLLVKEELKLINKYKSNLQFKL>D<VLSLIPTDLLYFKLGWNY------------ | 267 |
| CNGA2 | TGFLE--QGLLVKDTKKLRDNYIHTLQFKL>D<VASIIPTDLIYFAVDIHS------------ | 242 |
| CNGA3 | TGFLE--QGLMVSDTNRLWQHYKTTTQFKL>D<VLSLVPTDLAYLKVGTNY------------ | 270 |
| CNGA4 | TGFLE--QGILVVDKGRISSRYVRTWSFFL>D<LASLMPTDVVYVRLGPHT------------ | 136 |
| CNGB1 | LQFVR--GGDIITDKKDMRNNYLKSRRFKM>D<LLSLLPLDFLYLKVGVN------------- | 758 |
| CNGB3 | LQFVR--GGDIIVDSNELRKHYRTSTKFQL>D<VASIIPFDICYLFFGFN------------- | 320 |
| HCN1 | TGTVNEDSSEIILDPKVIKMNYLKSW-FVV>D<FISSIPVDYIFLIVEK--GMDSEVYKTARA | 253 |
| HCN2 | TGIVIEDNTEIILDPEKIKKKYLRTW-FVV>D<FVSSIPVDYIFLIVEK--GIDSEVYKTARA | 322 |
| HCN3 | TGIVVEEGAEILLAPRAIRTRYLRTW-FLV>D<LISSIPVDYIFLVVELEPRLDAEVYKTARA | 206 |
| HCN4 | TGIVVEDNTEIILDPQRIKMKYLKSW-FMV>D<FISSIPVDYIFLIVET--RIDSEVYKTARA | 373 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.D501G | c.1502A>G | Inherited Arrhythmia | LQTS | rs199473513 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Genotype-phenotype aspects of type 2 long QT syndrome. J Am Coll Cardiol. 2009 54(22):2052-62. 19926013 | ||
| p.D501H | c.1501G>C | Inherited Arrhythmia | LQTS | rs199472912 | 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 | 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 | |||
| p.D501N | c.1501G>A | Inherited Arrhythmia | LQTS | rs199472912 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | DHPLC analysis of potassium ion channel genes in congenital long QT syndrome. Hum Mutat. 2002 20(5):382-91. 12402336 | ||
| Other Cardiac Phenotype | Long QT syndrome in neonates: conduction disorders associated with HERG mutations and sinus bradycardia with KCNQ1 mutations. J Am Coll Cardiol. 2004 43(5):826-30. 14998624 | ||||
| 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 | |||
| 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 | |||