| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| CNGA3 | R436W | Colour-blindness, total | High | 9 | 11536077, 20088482, 25943428, 26992781 |
| CNGB1 | R916H | Retinitis pigmentosa | High | 9 | 22025579 |
| CNGA3 | R436Q | 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 | LYSGTARYHTQMLRVREFIRFHQIPNPLRQ>R<LEEYFQHAWSYTNGIDMNAVLKGFPECLQA | 726 |
| KCNH1 | MYANTNRYHEMLNSVRDFLKLYQVPKGLSE>R<VMDYIVSTWSMSRGIDTEKVLQICPKDMRA | 565 |
| KCNH3 | MYARRFLYHSRTRDLRDYIRIHRIPKPLKQ>R<MLEYFQATWAVNNGIDTTELLQSLPDELRA | 567 |
| KCNH4 | MYSRRSLYHSRMKDLKDFIRVHRLPRPLKQ>R<MLEYFQTTWAVNSGIDANELLRDFPDELRA | 541 |
| KCNH5 | MYANTNRYHEMLNNVRDFLKLYQVPKGLSE>R<VMDYIVSTWSMSKGIDTEKVLSICPKDMRA | 534 |
| KCNH6 | LYSGTARYHTQMLRVKEFIRFHQIPNPLRQ>R<LEEYFQHAWSYTNGIDMNAVLKGFPECLQA | 578 |
| KCNH7 | LYSGTARYHMQMLRVKEFIRFHQIPNPLRQ>R<LEEYFQHAWTYTNGIDMNMVLKGFPECLQA | 729 |
| KCNH8 | MYSRWSLYHTRTKDLKDFIRVHHLPQQLKQ>R<MLEYFQTTWSVNNGIDSNELLKDFPDELRS | 536 |
| CNGA1 | MNAARAEFQARIDAIKQYMHFRNVSKDMEK>R<VIKWFDYLWTNKKTVDEKEVLKYLPDKLRA | 463 |
| CNGA2 | MNATRAEFQAKIDAVKHYMQFRKVSKGMEA>K<VIRWFDYLWTNKKTVDEREILKNLPAKLRA | 438 |
| CNGA3 | MNASRAEFQAKIDSIKQYMQFRKVTKDLET>R<VIRWFDYLWANKKTVDEKEVLKSLPDKLKA | 466 |
| CNGA4 | MNTADAAFYPDHALVKKYMKLQHVNRKLER>R<VIDWYQHLQINKKMTNEVAILQHLPERLRA | 332 |
| CNGB1 | ATAGQTYYRSCMDSTVKYMNFYKIPKSVQN>R<VKTWYEYTWHSQGMLDESELMVQLPDKMRL | 946 |
| CNGB3 | ATANQNYFRACMDDTIAYMNNYSIPKLVQK>R<VRTWYEYTWDSQRMLDESDLLKTLPTTVQL | 508 |
| HCN1 | LDSSRRQYQEKYKQVEQYMSFHKLPADMRQ>K<IHDYYEHRYQG-KIFDEENILNELNDPLRE | 459 |
| HCN2 | LDSSRRQYQEKYKQVEQYMSFHKLPADFRQ>K<IHDYYEHRYQG-KMFDEDSILGELNGPLRE | 528 |
| HCN3 | LDSSRRQYQEKYKQVEQYMSFHKLPADTRQ>R<IHEYYEHRYQG-KMFDEESILGELSEPLRE | 412 |
| HCN4 | LDSSRRQYQEKYKQVEQYMSFHKLPPDTRQ>R<IHDYYEHRYQG-KMFDEESILGELSEPLRE | 579 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R696C | c.2086C>T | Inherited Arrhythmia | LQTS | rs199472984 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome. Clin Genet. 2006 70(3):214-27. 16922724 | ||
| Inherited Arrhythmia | LQTS | Torsades de pointes complicating atrioventricular block: evidence for a genetic predisposition. Heart Rhythm. 2007 4(2):170-4. 17275752 | |||
| 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.R696P | c.2087G>C | Inherited Arrhythmia | LQTS | rs199473531 | 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.R696H | c.2087G>A | Putative Benign | SIFT: Polyphen: | ||