| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| CNGA3 | T224R | Colour-blindness, total | High | 9 | 11536077 |
| CNGA3 | T224I | Cone dystrophy | High | 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 | ECGYACQPLAVVDLIVDIMFIVDI-LINFR>T<TYVN-ANEEVVSHPGRIAVHYFKGW-FLID | 501 |
| KCNH1 | -----NVAWLVVDSIVDVIFLVDI-VLNFH>T<TFVG-PAGEVISDPKLIRMNYLKTW-FVID | 299 |
| KCNH3 | -PSAARGPPSVCDLAVEVLFILDI-VLNFR>T<TFVS-KSGQVVFAPKSICLHYVTTW-FLLD | 310 |
| KCNH4 | -TPITSRHTLVSDIAVEMLFILDI-ILNFR>T<TYVS-QSGQVISAPRSIGLHYLATW-FFID | 312 |
| KCNH5 | -----NIAWLVLDSVVDVIFLVDI-VLNFH>T<TFVG-PGGEVISDPKLIRMNYLKTW-FVID | 296 |
| KCNH6 | ACSYTCSPLTVVDLIVDIMFVVDI-VINFR>T<TYVN-TNDEVVSHPRRIAVHYFKGW-FLID | 349 |
| KCNH7 | ECGYSCSPLNVVDLIVDIMFIIDI-LINFR>T<TYVN-QNEEVVSDPAKIAIHYFKGW-FLID | 500 |
| KCNH8 | -LS-TTRSTTVSDIAVEILFIIDI-ILNFR>T<TYVS-KSGQVIFEARSICIHYVTTW-FIID | 306 |
| CNGA1 | ---DYLEYWLILDYVSDIVYLIDM-FVRTR>T<GYLE--QGLLVKEELKLINKYKSNLQFKLD | 249 |
| CNGA2 | ---GYYLVWLVLDYVSDVVYIADL-FIRLR>T<GFLE--QGLLVKDTKKLRDNYIHTLQFKLD | 224 |
| CNGA3 | ---EYLMLWLVLDYSADVLYVLDV-LVRAR>T<GFLE--QGLMVSDTNRLWQHYKTTTQFKLD | 252 |
| CNGA4 | ---GYLVAWLVLDYTSDLLYLLDM-VVRFH>T<GFLE--QGILVVDKGRISSRYVRTWSFFLD | 118 |
| CNGB1 | ---DNIHHWLLMDYLCDLIYFLDITVFQTR>L<QFVR--GGDIITDKKDMRNNYLKSRRFKMD | 741 |
| CNGB3 | ---DNIHYWLIADIICDIIYLYDMLFIQPR>L<QFVR--GGDIIVDSNELRKHYRTSTKFQLD | 303 |
| HCN1 | -----TTPWIIFNVASDTVFLLDL-IMNFR>T<GTVNEDSSEIILDPKVIKMNYLKSW-FVVD | 225 |
| HCN2 | -----TAPWIVFNVVSDTFFLMDL-VLNFR>T<GIVIEDNTEIILDPEKIKKKYLRTW-FVVD | 294 |
| HCN3 | -----SPPWIVFNVLSDTFFLLDL-VLNFR>T<GIVVEEGAEILLAPRAIRTRYLRTW-FLVD | 176 |
| HCN4 | -----TTPWIVFNVVSDTFFLIDL-VLNFR>T<GIVVEDNTEIILDPQRIKMKYLKSW-FMVD | 345 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.T473N | c.1418C>A | Inherited Arrhythmia | LQTS | rs199472905 | SIFT: deleterious Polyphen: probably 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 | ||
| p.T473P | c.1417A>C | Inherited Arrhythmia | LQTS | rs199473512 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Long QT syndrome with compound mutations is associated with a more severe phenotype: a Japanese multicenter study. Heart Rhythm. 2010 7(10):1411-8. 20541041 | ||
| Inherited Arrhythmia | LQTS | A novel mutation in the transmembrane nonpore region of the KCNH2 gene causes severe clinical manifestations of long QT syndrome. Heart Rhythm. 2013 10(1):61-7. doi: 10.1016/j.hrthm.2012.09.053. 23010577 | |||