| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| CACNA1F | G1350V | Night blindness, congenital stationary, incomplete | Medium | 9 | 25307992 |
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 | LMMSLPALFNIGLLLFLVMFIYSIFGMANF>A<YVKW-----EAG-----IDDMFNFQTFANS | 1700 |
| SCN1A | LMMSLPALFNIGLLLFLVMFIYAIFGMSNF>A<YVKR-----EVG-----IDDMFNFETFGNS | 1713 |
| SCN2A | LMMSLPALFNIGLLLFLVMFIYAIFGMSNF>A<YVKR-----EVG-----IDDMFNFETFGNS | 1703 |
| SCN3A | LMMSLPALFNIGLLLFLVMFIYAIFGMSNF>A<YVKK-----EAG-----IDDMFNFETFGNS | 1698 |
| SCN4A | LMMSLPALFNIGLLLFLVMFIYSIFGMSNF>A<YVKK-----ESG-----IDDMFNFETFGNS | 1525 |
| SCN7A | LMLSLPALLNIILLIFLVMFIYAVFGMYNF>A<YVKK-----EAG-----INDVSNFETFGNS | 1423 |
| SCN8A | LMMSLPALFNIGLLLFLVMFIFSIFGMSNF>A<YVKH-----EAG-----IDDMFNFETFGNS | 1694 |
| SCN9A | LMMSLPALFNIGLLLFLVMFIYAIFGMSNF>A<YVKK-----EDG-----INDMFNFETFGNS | 1676 |
| SCN10A | LMMSLPALFNIGLLLFLVMFIYSIFGMSSF>P<HVRW-----EAG-----IDDMFNFQTFANS | 1650 |
| SCN11A | LMMSLPSLFNIGLLLFLIMFIYAILGMNWF>S<KVNP-----ESG-----IDDIFNFKTFASS | 1540 |
| CACNA1A | FVQSFKALPYVCLLIAMLFFIYAIIGMQVF>G<NIGIDVEDEDSDEDEFQITEHNNFRTFFQA | 1745 |
| CACNA1B | FVQSFKALPYVCLLIAMLFFIYAIIGMQVF>G<NIALDD---DTS-----INRHNNFRTFLQA | 1645 |
| CACNA1C | FIKSFQALPYVALLIVMLFFIYAVIGMQVF>G<KIALND---TTE-----INRNNNFQTFPQA | 1405 |
| CACNA1D | FIKSFQALPYVALLIAMLFFIYAVIGMQMF>G<KVAMRD---NNQ-----INRNNNFQTFPQA | 1415 |
| CACNA1E | FVQSFKALPYVCLLIAMLFFIYAIIGMQVF>G<NIKLDE---ESH-----INRHNNFRSFFGS | 1652 |
| CACNA1F | FIKSFQALPYVALLIAMIFFIYAVIGMQMF>G<KVALQD---GTQ-----INRNNNFQTFPQA | 1372 |
| CACNA1G | VMQALPQVGNLGLLFMLLFFIFAALGVELF>G<DLECDET---HP--CEGLGRHATFRNFGMA | 1791 |
| CACNA1H | VVQALPQVGNLGLLFMLLFFIYAALGVELF>G<RLECSED---NP--CEGLSRHATFSNFGMA | 1797 |
| CACNA1I | VVQALPQVGNLGLLFMLLFFIYAALGVELF>G<KLVCNDE---NP--CEGMSRHATFENFGMA | 1667 |
| CACNA1S | FIKSFQALPYVALLIVMLFFIYAVIGMQMF>G<KIALVD---GTQ-----INRNNNFQTFPQA | 1312 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.A1680T | c.5038G>A | Inherited Arrhythmia | LQTS,BrS | rs199473294 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Other Cardiac Phenotype | High-efficiency multiplex capillary electrophoresis single strand conformation polymorphism (multi-CE-SSCP) mutation screening of SCN5A: a rapid genetic approach to cardiac arrhythmia. Clin Genet. 2006 69(6):504-11. 16712702 | |||
| Inherited Arrhythmia | BrS | Sudden arrhythmic death syndrome: familial evaluation identifies inheritable heart disease in the majority of families. Eur Heart J. 2008 29(13):1670-80. 18508782 | |||
| Inherited Arrhythmia | BrS | An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm. 2010 7(1):33-46. 20129283 | |||
| Inherited Arrhythmia | LQTS | Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. Genet Test Mol Biomarkers. 2013 17(7):553-61. doi: 10.1089/gtmb.2012.0118. 23631430 | |||