No paralogue variants have been mapped to residue 619 for SCN5A.
| SCN5A | -DCNGVVSLLG-AGD----PEAT-SPGSHL>L<RP-------------VMLEHPP--DTTTPS | 634 |
| SCN1A | VDCNGVVSLVG-G-P----SVPT-SPVGQL>L<PE-------------VIIDKPATDDNGTTT | 685 |
| SCN2A | VDCNGVVSLVG-G-P----STLT-SA-GQL>L<PE------------------------GTTT | 676 |
| SCN3A | VDCNGVVSLVG-G-P----SALT-SPTGQL>P<PE------------------------GTTT | 677 |
| SCN4A | -DCNGSLDTSQ-G----------------->-<------------------------------ | 515 |
| SCN7A | ------------------------------>-<----------------------------TI | 434 |
| SCN8A | VDCNGVVSLIG-G-P----GSHI---GGRL>L<PE------------------------A-TT | 669 |
| SCN9A | VDCNGVVSLVD-G-R----SALM-LPNGQL>L<PE-------------G-----------TTN | 651 |
| SCN10A | --------SRH-G-E----DEHQPPPT-SE>L<AP----------------------GAVDVS | 585 |
| SCN11A | -DCQKKPQLLE-Q----------------->-<T----------------------------- | 498 |
| CACNA1A | ------------------------------>-<---------------------------D-- | 432 |
| CACNA1B | ------------------------------>-<---------------------------D-- | 428 |
| CACNA1C | ------------------------------>-<---------------------------E-- | 472 |
| CACNA1D | ------------------------------>-<---------------------------E-- | 472 |
| CACNA1E | ------------------------------>-<---------------------------E-- | 421 |
| CACNA1F | ------------------------------>-<---------------------------T-- | 458 |
| CACNA1G | AASSGPPTLTSL-NI----PPGPY-SSMHK>L<LETQSTGACQS-----SC--KISSPCLK-- | 656 |
| CACNA1H | GKWAGGPPGTGGHGPLSLNSPDPY-EKIPH>V<VGEHGLGQAPGHLSGLSV--PCPLPSPP-- | 689 |
| CACNA1I | -TLAS------------------------->-<------------------------------ | 548 |
| CACNA1S | ------------------------------>-<---------------------------E-- | 396 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.L619F | c.1855C>T | Inherited Arrhythmia | LQTS,BrS | rs199473133 | SIFT: tolerated Polyphen: benign |
| Reports | Inherited Arrhythmia | LQTS | A novel mutation L619F in the cardiac Na+ channel SCN5A associated with long-QT syndrome (LQT3): a role for the I-II linker in inactivation gating. Hum Mutat. 2003 21(5):552. 12673799 | ||
| Other Cardiac Phenotype | Long QT syndrome in neonates: conduction disorders associated with HERG mutations and sinus bradycardia with KCNQ1 mutations. J Am Coll Cardiol. 2004 43(5):826-30. 14998624 | ||||
| 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 | High prevalence of genetic variants previously associated with LQT syndrome in new exome data. Eur J Hum Genet. 2012 20(8):905-8. doi: 10.1038/ejhg.2012.23. 22378279 | |||
| Inherited Arrhythmia | LQTS | High prevalence of genetic variants previously associated with Brugada syndrome in new exome data. Clin Genet. 2013 23414114 | |||
| 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 | ||||