No paralogue variants have been mapped to residue 1288 for SCN5A.
SCN5A | GF----KKYFTNAWCWLDFLIVDVSLVSLV>A<N-T----LGFAEMGPIKSLRTLRALRPLRA | 1313 |
SCN1A | GY----QTYFTNAWCWLDFLIVDVSLVSLT>A<N-A----LGYSELGAIKSLRTLRALRPLRA | 1326 |
SCN2A | GF----QVYFTNAWCWLDFLIVDVSLVSLT>A<N-A----LGYSELGAIKSLRTLRALRPLRA | 1316 |
SCN3A | GF----QTYFTNAWCWLDFLIVDVSLVSLV>A<N-A----LGYSELGAIKSLRTLRALRPLRA | 1314 |
SCN4A | GF----KVYFTNAWCWLDFLIVDVSIISLV>A<N-W----LGYSELGPIKSLRTLRALRPLRA | 1139 |
SCN7A | GF----KAYFSNGWYRLDFVVVIVFCLSLI>G<K-T----RE--E---LKPLISMKFLRPLRV | 1037 |
SCN8A | GF----VKFFTNAWCWLDFLIVAVSLVSLI>A<N-A----LGYSELGAIKSLRTLRALRPLRA | 1306 |
SCN9A | GY----KTYFTNAWCWLDFLIVDVSLVTLV>A<N-T----LGYSDLGPIKSLRTLRALRPLRA | 1289 |
SCN10A | GF----KKYFTNAWCWLDFLIVNISLISLT>A<K-I----LEYSEVAPIKALRTLRALRPLRA | 1260 |
SCN11A | GF----GKYFTSAWCCLDFIIVIVSVTTLI>-<--------N---LMELKSFRTLRALRPLRA | 1157 |
CACNA1A | GLVLHQGAYFRDLWNILDFIVVSGALVAFA>F<TGN----SKGKDINTIKSLRVLRVLRPLKT | 1356 |
CACNA1B | GLLLHPGAYFRDLWNILDFIVVSGALVAFA>F<S-G----SKGKDINTIKSLRVLRVLRPLKT | 1262 |
CACNA1C | GAFLHKGSFCRNYFNILDLLVVSVSLISF->-<--G----IQSSAINVVKILRVLRVLRPLRA | 1008 |
CACNA1D | GAFLHKGAFCRNYFNLLDMLVVGVSLVSF->-<--G----IQSSAISVVKILRVLRVLRPLRA | 1014 |
CACNA1E | GLILQDGSYFRDLWNILDFVVVVGALVAFA>L<ANA-LGTNKGRDIKTIKSLRVLRVLRPLKT | 1268 |
CACNA1F | GAFLHRGSFCRSWFNMLDLLVVSVSLISF->-<--G----IHSSAISVVKILRVLRVLRPLRA | 979 |
CACNA1G | GWCFGEQAYLRSSWNVLDGLLVLISVIDIL>V<S-MVSD-SGTKILGMLRVLRLLRTLRPLRV | 1391 |
CACNA1H | GLLSGEHAYLQSSWNLLDGLLVLVSLVDIV>V<A-MASA-GGAKILGVLRVLRLLRTLRPLRV | 1409 |
CACNA1I | GLYFGEQAYLRSSWNVLDGFLVFVSIIDIV>V<S-LASA-GGAKILGVLRVLRLLRTLRPLRV | 1285 |
CACNA1S | GAFLHKGSFCRNYFNMLDLLVVAVSLISM->-<--G----LESSAISVVKILRVLRVLRPLRA | 907 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A1288G | c.3863C>G | Inherited Arrhythmia | BrS | rs199473217 | SIFT: deleterious Polyphen: probably damaging |
Reports | 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 |