No paralogue variants have been mapped to residue 1308 for SCN5A.
| SCN5A | LVSLVAN-T----LGFAEMGPIKSLRTLRA>L<RPLRALSRFEGMRVVVNALVGAIPSIMNVL | 1338 |
| SCN1A | LVSLTAN-A----LGYSELGAIKSLRTLRA>L<RPLRALSRFEGMRVVVNALLGAIPSIMNVL | 1351 |
| SCN2A | LVSLTAN-A----LGYSELGAIKSLRTLRA>L<RPLRALSRFEGMRVVVNALLGAIPSIMNVL | 1341 |
| SCN3A | LVSLVAN-A----LGYSELGAIKSLRTLRA>L<RPLRALSRFEGMRVVVNALVGAIPSIMNVL | 1339 |
| SCN4A | IISLVAN-W----LGYSELGPIKSLRTLRA>L<RPLRALSRFEGMRVVVNALLGAIPSIMNVL | 1164 |
| SCN7A | CLSLIGK-T----RE--E---LKPLISMKF>L<RPLRVLSQFERMKVVVRALIKTTLPTLNVF | 1062 |
| SCN8A | LVSLIAN-A----LGYSELGAIKSLRTLRA>L<RPLRALSRFEGMRVVVNALVGAIPSIMNVL | 1331 |
| SCN9A | LVTLVAN-T----LGYSDLGPIKSLRTLRA>L<RPLRALSRFEGMRVVVNALIGAIPSIMNVL | 1314 |
| SCN10A | LISLTAK-I----LEYSEVAPIKALRTLRA>L<RPLRALSRFEGMRVVVDALVGAIPSIMNVL | 1285 |
| SCN11A | VTTLI---------N---LMELKSFRTLRA>L<RPLRALSQFEGMKVVVNALIGAIPAILNVL | 1182 |
| CACNA1A | LVAFAFTGN----SKGKDINTIKSLRVLRV>L<RPLKTIKRLPKLKAVFDCVVNSLKNVFNIL | 1381 |
| CACNA1B | LVAFAFS-G----SKGKDINTIKSLRVLRV>L<RPLKTIKRLPKLKAVFDCVVNSLKNVLNIL | 1287 |
| CACNA1C | LISF----G----IQSSAINVVKILRVLRV>L<RPLRAINRAKGLKHVVQCVFVAIRTIGNIV | 1033 |
| CACNA1D | LVSF----G----IQSSAISVVKILRVLRV>L<RPLRAINRAKGLKHVVQCVFVAIRTIGNIM | 1039 |
| CACNA1E | LVAFALANA-LGTNKGRDIKTIKSLRVLRV>L<RPLKTIKRLPKLKAVFDCVVTSLKNVFNIL | 1293 |
| CACNA1F | LISF----G----IHSSAISVVKILRVLRV>L<RPLRAINRAKGLKHVVQCVFVAIRTIGNIM | 1004 |
| CACNA1G | VIDILVS-MVSD-SGTKILGMLRVLRLLRT>L<RPLRVISRAQGLKLVVETLMSSLKPIGNIV | 1416 |
| CACNA1H | LVDIVVA-MASA-GGAKILGVLRVLRLLRT>L<RPLRVISRAPGLKLVVETLISSLRPIGNIV | 1434 |
| CACNA1I | IIDIVVS-LASA-GGAKILGVLRVLRLLRT>L<RPLRVISRAPGLKLVVETLISSLKPIGNIV | 1310 |
| CACNA1S | LISM----G----LESSAISVVKILRVLRV>L<RPLRAINRAKGLKHVVQCMFVAISTIGNIV | 932 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.L1308F | c.3922C>T | Conflict | rs41313031 | SIFT: deleterious Polyphen: probably damaging | |
| Reports | Other Cardiac Phenotype | Spectrum and prevalence of cardiac sodium channel variants among black, white, Asian, and Hispanic individuals: implications for arrhythmogenic susceptibility and Brugada/long QT syndrome genetic testing. Heart Rhythm. 2004 1(5):600-7. 15851227 | |||
| Other Cardiac Phenotype | Lidocaine-induced Brugada syndrome phenotype linked to a novel double mutation in the cardiac sodium channel. Circ Res. 2008 103(4):396-404. 18599870 | ||||
| Benign | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | ||||
| Benign | 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 | ||||
| Other Cardiac Phenotype | High prevalence of genetic variants previously associated with Brugada syndrome in new exome data. Clin Genet. 2013 23414114 | ||||
| Other Cardiac Phenotype | Actionable, pathogenic incidental findings in 1,000 participants' exomes. Am J Hum Genet. 2013 93(4):631-40. doi: 10.1016/j.ajhg.2013.08.006. 24055113 | ||||
| Unknown | Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 25(3):305-15. doi: 10.1101/gr.183483.114. 25637381 | ||||
| Unknown | Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart. 2015 101(4):294-301. doi: 10.1136/heartjnl-2014-306387. 25351510 | ||||