Paralogue Annotation for SCN5A residue 1249

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1249
Reference Amino Acid: V - Valine
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1249

No paralogue variants have been mapped to residue 1249 for SCN5A.



SCN5ASGALAFEDIYLEERKTIKVLLEYADKMFTY>V<FVLEMLLKWVAYGF----KKYFTNAWCWLD1275
SCN1ASGALAFEDIYIDQRKTIKTMLEYADKVFTY>I<FILEMLLKWVAYGY----QTYFTNAWCWLD1288
SCN2ASGALAFEDIYIEQRKTIKTMLEYADKVFTY>I<FILEMLLKWVAYGF----QVYFTNAWCWLD1278
SCN3ASGALAFEDIYIEQRKTIKTMLEYADKVFTY>I<FILEMLLKWVAYGF----QTYFTNAWCWLD1276
SCN4ASGALAFEDIYIEQRRVIRTILEYADKVFTY>I<FIMEMLLKWVAYGF----KVYFTNAWCWLD1101
SCN7ATGTLAFEDIYMDQRKTIKILLEYADMIFTY>I<FILEMLLKWMAYGF----KAYFSNGWYRLD1004
SCN8ASGALAFEDIYIEQRKTIRTILEYADKVFTY>I<FILEMLLKWTAYGF----VKFFTNAWCWLD1268
SCN9ASGALAFEDIYIERKKTIKIILEYADKIFTY>I<FILEMLLKWIAYGY----KTYFTNAWCWLD1251
SCN10ASGSLAFEDYYLDQKPTVKALLEYTDRVFTF>I<FVFEMLLKWVAYGF----KKYFTNAWCWLD1222
SCN11ASGALIFEDVHLENQPKIQELLNCTDIIFTH>I<FILEMVLKWVAFGF----GKYFTSAWCCLD1126
CACNA1ASIALAAEDPV-QPNAPRNNVLRYFDYVFTG>V<FTFEMVIKMIDLGLVLHQGAYFRDLWNILD1317
CACNA1BSIALAAEDPV-RTDSPRNNALKYLDYIFTG>V<FTFEMVIKMIDLGLLLHPGAYFRDLWNILD1224
CACNA1CSISLAAEDPV-QHTSFRNHILFYFDIVFTT>I<FTIEIALKMTAYGAFLHKGSFCRNYFNILD973
CACNA1DSAALAAEDPI-RSHSFRNTILGYFDYAFTA>I<FTVEILLKMTTFGAFLHKGAFCRNYFNLLD979
CACNA1ESIALAAEDPV-LTNSERNKVLRYFDYVFTG>V<FTFEMVIKMIDQGLILQDGSYFRDLWNILD1226
CACNA1FSVSLAAEDPI-RAHSFRNHILGYFDYAFTS>I<FTVEILLKMTVFGAFLHRGSFCRSWFNMLD944
CACNA1GCITIAMERPKIDPHSAERIFLTLSNYIFTA>V<FLAEMTVKVVALGWCFGEQAYLRSSWNVLD1350
CACNA1HCVTIALERPDIDPGSTERVFLSVSNYIFTA>I<FVAEMMVKVVALGLLSGEHAYLQSSWNLLD1368
CACNA1ICITIALERPQIEAGSTERIFLTVSNYIFTA>I<FVGEMTLKVVSLGLYFGEQAYLRSSWNVLD1244
CACNA1SSAALAAEDPI-RADSMRNQILKHFDIGFTS>V<FTVEIVLKMTTYGAFLHKGSFCRNYFNMLD872
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V1249Dc.3746T>A Inherited ArrhythmiaBrSrs199473213SIFT: deleterious
Polyphen: possibly damaging
ReportsInherited ArrhythmiaBrS 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