Paralogue Annotation for SCN5A residue 1240

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1240
Reference Amino Acid: E - Glutamate
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1240

No paralogue variants have been mapped to residue 1240 for SCN5A.



SCN5AFIIFMILLSSGALAFEDIYLEERKTIKVLL>E<YADKMFTYVFVLEMLLKWVAYGF----KKY1266
SCN1AFIVFMILLSSGALAFEDIYIDQRKTIKTML>E<YADKVFTYIFILEMLLKWVAYGY----QTY1279
SCN2AFIVFMILLSSGALAFEDIYIEQRKTIKTML>E<YADKVFTYIFILEMLLKWVAYGF----QVY1269
SCN3AFIVFMILLSSGALAFEDIYIEQRKTIKTML>E<YADKVFTYIFILEMLLKWVAYGF----QTY1267
SCN4AFIVFMILLSSGALAFEDIYIEQRRVIRTIL>E<YADKVFTYIFIMEMLLKWVAYGF----KVY1092
SCN7AFIGLVTLLSTGTLAFEDIYMDQRKTIKILL>E<YADMIFTYIFILEMLLKWMAYGF----KAY995
SCN8AFIIFMILLSSGALAFEDIYIEQRKTIRTIL>E<YADKVFTYIFILEMLLKWTAYGF----VKF1259
SCN9AFIVLMILLSSGALAFEDIYIERKKTIKIIL>E<YADKIFTYIFILEMLLKWIAYGY----KTY1242
SCN10AFIIFMILLSSGSLAFEDYYLDQKPTVKALL>E<YTDRVFTFIFVFEMLLKWVAYGF----KKY1213
SCN11AFIIFVILLSSGALIFEDVHLENQPKIQELL>N<CTDIIFTHIFILEMVLKWVAFGF----GKY1117
CACNA1ACILMVIAMSSIALAAEDPV-QPNAPRNNVL>R<YFDYVFTGVFTFEMVIKMIDLGLVLHQGAY1308
CACNA1BVILVVIALSSIALAAEDPV-RTDSPRNNAL>K<YLDYIFTGVFTFEMVIKMIDLGLLLHPGAY1215
CACNA1CLILFFILLSSISLAAEDPV-QHTSFRNHIL>F<YFDIVFTTIFTIEIALKMTAYGAFLHKGSF964
CACNA1DLILVFIMLSSAALAAEDPI-RSHSFRNTIL>G<YFDYAFTAIFTVEILLKMTTFGAFLHKGAF970
CACNA1ECILLVIAASSIALAAEDPV-LTNSERNKVL>R<YFDYVFTGVFTFEMVIKMIDQGLILQDGSY1217
CACNA1FLILVFIILSSVSLAAEDPI-RAHSFRNHIL>G<YFDYAFTSIFTVEILLKMTVFGAFLHRGSF935
CACNA1GVVLVIIFLNCITIAMERPKIDPHSAERIFL>T<LSNYIFTAVFLAEMTVKVVALGWCFGEQAY1341
CACNA1HVVLVFIFLNCVTIALERPDIDPGSTERVFL>S<VSNYIFTAIFVAEMMVKVVALGLLSGEHAY1359
CACNA1IVVLAFIFLNCITIALERPQIEAGSTERIFL>T<VSNYIFTAIFVGEMTLKVVSLGLYFGEQAY1235
CACNA1SFILLFILLSSAALAAEDPI-RADSMRNQIL>K<HFDIGFTSVFTVEIVLKMTTYGAFLHKGSF863
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E1240Qc.3718G>C Inherited ArrhythmiaBrSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaBrS Natural history of Brugada syndrome: insights for risk stratification and management. Circulation. 2002 105(11):1342-7. 11901046
Inherited ArrhythmiaBrS High prevalence of genetic variants previously associated with Brugada syndrome in new exome data. Clin Genet. 2013 23414114
Unknown Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart. 2015 101(4):294-301. doi: 10.1136/heartjnl-2014-306387. 25351510