No paralogue variants have been mapped to residue 1319 for SCN5A.
| SCN5A | --LGFAEMGPIKSLRTLRALRPLRALSRFE>G<MRVVVNALVGAIPSIMNVLLVCLIFWLIFS | 1349 |
| SCN1A | --LGYSELGAIKSLRTLRALRPLRALSRFE>G<MRVVVNALLGAIPSIMNVLLVCLIFWLIFS | 1362 |
| SCN2A | --LGYSELGAIKSLRTLRALRPLRALSRFE>G<MRVVVNALLGAIPSIMNVLLVCLIFWLIFS | 1352 |
| SCN3A | --LGYSELGAIKSLRTLRALRPLRALSRFE>G<MRVVVNALVGAIPSIMNVLLVCLIFWLIFS | 1350 |
| SCN4A | --LGYSELGPIKSLRTLRALRPLRALSRFE>G<MRVVVNALLGAIPSIMNVLLVCLIFWLIFS | 1175 |
| SCN7A | --RE--E---LKPLISMKFLRPLRVLSQFE>R<MKVVVRALIKTTLPTLNVFLVCLMIWLIFS | 1073 |
| SCN8A | --LGYSELGAIKSLRTLRALRPLRALSRFE>G<MRVVVNALVGAIPSIMNVLLVCLIFWLIFS | 1342 |
| SCN9A | --LGYSDLGPIKSLRTLRALRPLRALSRFE>G<MRVVVNALIGAIPSIMNVLLVCLIFWLIFS | 1325 |
| SCN10A | --LEYSEVAPIKALRTLRALRPLRALSRFE>G<MRVVVDALVGAIPSIMNVLLVCLIFWLIFS | 1296 |
| SCN11A | ---N---LMELKSFRTLRALRPLRALSQFE>G<MKVVVNALIGAIPAILNVLLVCLIFWLVFC | 1193 |
| CACNA1A | --SKGKDINTIKSLRVLRVLRPLKTIKRLP>K<LKAVFDCVVNSLKNVFNILIVYMLFMFIFA | 1392 |
| CACNA1B | --SKGKDINTIKSLRVLRVLRPLKTIKRLP>K<LKAVFDCVVNSLKNVLNILIVYMLFMFIFA | 1298 |
| CACNA1C | --IQSSAINVVKILRVLRVLRPLRAINRAK>G<LKHVVQCVFVAIRTIGNIVIVTTLLQFMFA | 1044 |
| CACNA1D | --IQSSAISVVKILRVLRVLRPLRAINRAK>G<LKHVVQCVFVAIRTIGNIMIVTTLLQFMFA | 1050 |
| CACNA1E | GTNKGRDIKTIKSLRVLRVLRPLKTIKRLP>K<LKAVFDCVVTSLKNVFNILIVYKLFMFIFA | 1304 |
| CACNA1F | --IHSSAISVVKILRVLRVLRPLRAINRAK>G<LKHVVQCVFVAIRTIGNIMIVTTLLQFMFA | 1015 |
| CACNA1G | D-SGTKILGMLRVLRLLRTLRPLRVISRAQ>G<LKLVVETLMSSLKPIGNIVVICCAFFIIFG | 1427 |
| CACNA1H | A-GGAKILGVLRVLRLLRTLRPLRVISRAP>G<LKLVVETLISSLRPIGNIVLICCAFFIIFG | 1445 |
| CACNA1I | A-GGAKILGVLRVLRLLRTLRPLRVISRAP>G<LKLVVETLISSLKPIGNIVLICCAFFIIFG | 1321 |
| CACNA1S | --LESSAISVVKILRVLRVLRPLRAINRAK>G<LKHVVQCMFVAISTIGNIVLVTTLLQFMFA | 943 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.G1319V | c.3956G>T | Inherited Arrhythmia | BrS | rs199473220 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | BrS | Genotype-phenotype relationship in Brugada syndrome: electrocardiographic features differentiate SCN5A-related patients from non-SCN5A-related patients. J Am Coll Cardiol. 2002 40(2):350-6. 12106943 | ||
| Inherited Arrhythmia | BrS | Characterization of a novel SCN5A mutation associated with Brugada syndrome reveals involvement of DIIIS4-S5 linker in slow inactivation. Cardiovasc Res. 2007 76(3):418-29. 17854786 | |||
| 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 | BrS | High prevalence of genetic variants previously associated with Brugada syndrome in new exome data. Clin Genet. 2013 23414114 | |||
| Inherited Arrhythmia | BrS | Brugada syndrome disease phenotype explained in apparently benign sodium channel mutations. Circ Cardiovasc Genet. 2014 7(2):123-31. doi: 10.1161/CIRCGENETICS.113.000292. 24573164 | |||
| Cardiomyopathy | nsCM | Targeted analysis of whole genome sequence data to diagnose genetic cardiomyopathy. Circ Cardiovasc Genet. 2014 7(6):751-9. doi: 10.1161/CIRCGENETICS.113.000578. 25179549 | |||