Paralogue Annotation for SCN5A residue 1239

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1239
Reference Amino Acid: L - Leucine
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1239

No paralogue variants have been mapped to residue 1239 for SCN5A.



SCN5ATFIIFMILLSSGALAFEDIYLEERKTIKVL>L<EYADKMFTYVFVLEMLLKWVAYGF----KK1265
SCN1ATFIVFMILLSSGALAFEDIYIDQRKTIKTM>L<EYADKVFTYIFILEMLLKWVAYGY----QT1278
SCN2ATFIVFMILLSSGALAFEDIYIEQRKTIKTM>L<EYADKVFTYIFILEMLLKWVAYGF----QV1268
SCN3ATFIVFMILLSSGALAFEDIYIEQRKTIKTM>L<EYADKVFTYIFILEMLLKWVAYGF----QT1266
SCN4ATFIVFMILLSSGALAFEDIYIEQRRVIRTI>L<EYADKVFTYIFIMEMLLKWVAYGF----KV1091
SCN7ACFIGLVTLLSTGTLAFEDIYMDQRKTIKIL>L<EYADMIFTYIFILEMLLKWMAYGF----KA994
SCN8ATFIIFMILLSSGALAFEDIYIEQRKTIRTI>L<EYADKVFTYIFILEMLLKWTAYGF----VK1258
SCN9ASFIVLMILLSSGALAFEDIYIERKKTIKII>L<EYADKIFTYIFILEMLLKWIAYGY----KT1241
SCN10ASFIIFMILLSSGSLAFEDYYLDQKPTVKAL>L<EYTDRVFTFIFVFEMLLKWVAYGF----KK1212
SCN11ASFIIFVILLSSGALIFEDVHLENQPKIQEL>L<NCTDIIFTHIFILEMVLKWVAFGF----GK1116
CACNA1AMCILMVIAMSSIALAAEDPV-QPNAPRNNV>L<RYFDYVFTGVFTFEMVIKMIDLGLVLHQGA1307
CACNA1BVVILVVIALSSIALAAEDPV-RTDSPRNNA>L<KYLDYIFTGVFTFEMVIKMIDLGLLLHPGA1214
CACNA1CNLILFFILLSSISLAAEDPV-QHTSFRNHI>L<FYFDIVFTTIFTIEIALKMTAYGAFLHKGS963
CACNA1DNLILVFIMLSSAALAAEDPI-RSHSFRNTI>L<GYFDYAFTAIFTVEILLKMTTFGAFLHKGA969
CACNA1EMCILLVIAASSIALAAEDPV-LTNSERNKV>L<RYFDYVFTGVFTFEMVIKMIDQGLILQDGS1216
CACNA1FNLILVFIILSSVSLAAEDPI-RAHSFRNHI>L<GYFDYAFTSIFTVEILLKMTVFGAFLHRGS934
CACNA1GHVVLVIIFLNCITIAMERPKIDPHSAERIF>L<TLSNYIFTAVFLAEMTVKVVALGWCFGEQA1340
CACNA1HHVVLVFIFLNCVTIALERPDIDPGSTERVF>L<SVSNYIFTAIFVAEMMVKVVALGLLSGEHA1358
CACNA1IYVVLAFIFLNCITIALERPQIEAGSTERIF>L<TVSNYIFTAIFVGEMTLKVVSLGLYFGEQA1234
CACNA1SNFILLFILLSSAALAAEDPI-RADSMRNQI>L<KHFDIGFTSVFTVEIVLKMTTYGAFLHKGS862
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L1239Pc.3716T>C Inherited ArrhythmiaBrSrs199473210SIFT: deleterious
Polyphen: probably 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