| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| CACNA1A | G1755R | Epilepsy with typical absence seizures | Medium | 9 | 26795593 |
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 SCN5A.
| SCN5A | EAG-----IDDMFNFQTFANSMLCLFQITT>S<AGWDGLLSPILNTGPPYCDPTLPN-S-NGS | 1738 |
| SCN1A | EVG-----IDDMFNFETFGNSMICLFQITT>S<AGWDGLLAPILNSKPPDCDPNKVN-PGSSV | 1752 |
| SCN2A | EVG-----IDDMFNFETFGNSMICLFQITT>S<AGWDGLLAPILNSGPPDCDPDKDH-PGSSV | 1742 |
| SCN3A | EAG-----IDDMFNFETFGNSMICLFQITT>S<AGWDGLLAPILNSAPPDCDPDTIH-PGSSV | 1737 |
| SCN4A | ESG-----IDDMFNFETFGNSIICLFEITT>S<AGWDGLLNPILNSGPPDCDPNLEN-PGTSV | 1564 |
| SCN7A | EAG-----INDVSNFETFGNSMLCLFQVAI>F<AGWDGMLDAIFNSKWSDCDPDKIN-PGTQV | 1462 |
| SCN8A | EAG-----IDDMFNFETFGNSMICLFQITT>S<AGWDGLLLPILN-RPPDCSLDKEH-PGSGF | 1732 |
| SCN9A | EDG-----INDMFNFETFGNSMICLFQITT>S<AGWDGLLAPILNSKPPDCDPKKVH-PGSSV | 1715 |
| SCN10A | EAG-----IDDMFNFQTFANSMLCLFQITT>S<AGWDGLLSPILNTGPPYCDPNLPN-S-NGT | 1688 |
| SCN11A | ESG-----IDDIFNFKTFASSMLCLFQIST>S<AGWDSLLSPMLRSKES-CN---------SS | 1570 |
| CACNA1A | DSDEDEFQITEHNNFRTFFQALMLLFRSAT>G<EAWHNIMLSCLSG--KPCDKNSGIL----- | 1778 |
| CACNA1B | DTS-----INRHNNFRTFLQALMLLFRSAT>G<EAWHEIMLSCLSN--QACDE---Q------ | 1674 |
| CACNA1C | TTE-----INRNNNFQTFPQAVLLLFRCAT>G<EAWQDIMLACMPG--KKCAPESEP-SNSTE | 1442 |
| CACNA1D | NNQ-----INRNNNFQTFPQAVLLLFRCAT>G<EAWQEIMLACLPG--KLCDPESDY--NPGE | 1451 |
| CACNA1E | ESH-----INRHNNFRSFFGSLMLLFRSAT>G<EAWQEIMLSCLGE--KGCEPDTTAPSGQNE | 1690 |
| CACNA1F | GTQ-----INRNNNFQTFPQAVLLLFRCAT>G<EAWQEIMLASLPG--NRCDPESDF--GPGE | 1408 |
| CACNA1G | -HP--CEGLGRHATFRNFGMAFLTLFRVST>G<DNWNGIMKDTLRD----CDQEST-----C- | 1821 |
| CACNA1H | -NP--CEGLSRHATFSNFGMAFLTLFRVST>G<DNWNGIMKDTLRE----CSREDKH----C- | 1828 |
| CACNA1I | -NP--CEGMSRHATFENFGMAFLTLFQVST>G<DNWNGIMKDTLRD----CTHDERS----C- | 1698 |
| CACNA1S | GTQ-----INRNNNFQTFPQAVLLLFRCAT>G<EAWQEILLACSYG--KLCDPESDY--APGE | 1348 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.S1710L | c.5129C>T | Inherited Arrhythmia | BrS | rs137854604 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Other Cardiac Phenotype | A novel SCN5A mutation associated with idiopathic ventricular fibrillation without typical ECG findings of Brugada syndrome. FEBS Lett. 2000 479(1-2):29-34. 10940383 | |||
| Other Cardiac Phenotype | A mutant cardiac sodium channel with multiple biophysical defects associated with overlapping clinical features of Brugada syndrome and cardiac conduction disease. Cardiovasc Res. 2002 53(2):348-54. 11827685 | ||||
| Inherited Arrhythmia | BrS | A novel mutation in the SCN5A gene is associated with Brugada syndrome. Life Sci. 2007 80(8):716-24. 17141278 | |||
| Other Cardiac Phenotype | A connexin40 mutation associated with a malignant variant of progressive familial heart block type I. Circ Arrhythm Electrophysiol. 2012 5(1):163-72. 22247482 | ||||