Paralogue Annotation for SCN5A residue 1253

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1253
Reference Amino Acid: E - Glutamate
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1253

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AE1266ADravet syndrome C ?High9 21248271

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in SCN5A.



SCN5AAFEDIYLEERKTIKVLLEYADKMFTYVFVL>E<MLLKWVAYGF----KKYFTNAWCWLDFLIV1279
SCN1AAFEDIYIDQRKTIKTMLEYADKVFTYIFIL>E<MLLKWVAYGY----QTYFTNAWCWLDFLIV1292
SCN2AAFEDIYIEQRKTIKTMLEYADKVFTYIFIL>E<MLLKWVAYGF----QVYFTNAWCWLDFLIV1282
SCN3AAFEDIYIEQRKTIKTMLEYADKVFTYIFIL>E<MLLKWVAYGF----QTYFTNAWCWLDFLIV1280
SCN4AAFEDIYIEQRRVIRTILEYADKVFTYIFIM>E<MLLKWVAYGF----KVYFTNAWCWLDFLIV1105
SCN7AAFEDIYMDQRKTIKILLEYADMIFTYIFIL>E<MLLKWMAYGF----KAYFSNGWYRLDFVVV1008
SCN8AAFEDIYIEQRKTIRTILEYADKVFTYIFIL>E<MLLKWTAYGF----VKFFTNAWCWLDFLIV1272
SCN9AAFEDIYIERKKTIKIILEYADKIFTYIFIL>E<MLLKWIAYGY----KTYFTNAWCWLDFLIV1255
SCN10AAFEDYYLDQKPTVKALLEYTDRVFTFIFVF>E<MLLKWVAYGF----KKYFTNAWCWLDFLIV1226
SCN11AIFEDVHLENQPKIQELLNCTDIIFTHIFIL>E<MVLKWVAFGF----GKYFTSAWCCLDFIIV1130
CACNA1AAAEDPV-QPNAPRNNVLRYFDYVFTGVFTF>E<MVIKMIDLGLVLHQGAYFRDLWNILDFIVV1321
CACNA1BAAEDPV-RTDSPRNNALKYLDYIFTGVFTF>E<MVIKMIDLGLLLHPGAYFRDLWNILDFIVV1228
CACNA1CAAEDPV-QHTSFRNHILFYFDIVFTTIFTI>E<IALKMTAYGAFLHKGSFCRNYFNILDLLVV977
CACNA1DAAEDPI-RSHSFRNTILGYFDYAFTAIFTV>E<ILLKMTTFGAFLHKGAFCRNYFNLLDMLVV983
CACNA1EAAEDPV-LTNSERNKVLRYFDYVFTGVFTF>E<MVIKMIDQGLILQDGSYFRDLWNILDFVVV1230
CACNA1FAAEDPI-RAHSFRNHILGYFDYAFTSIFTV>E<ILLKMTVFGAFLHRGSFCRSWFNMLDLLVV948
CACNA1GAMERPKIDPHSAERIFLTLSNYIFTAVFLA>E<MTVKVVALGWCFGEQAYLRSSWNVLDGLLV1354
CACNA1HALERPDIDPGSTERVFLSVSNYIFTAIFVA>E<MMVKVVALGLLSGEHAYLQSSWNLLDGLLV1372
CACNA1IALERPQIEAGSTERIFLTVSNYIFTAIFVG>E<MTLKVVSLGLYFGEQAYLRSSWNVLDGFLV1248
CACNA1SAAEDPI-RADSMRNQILKHFDIGFTSVFTV>E<IVLKMTTYGAFLHKGSFCRNYFNMLDLLVV876
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E1253Gc.3758A>G Inherited ArrhythmiaBrSrs199473214SIFT: 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
Inherited ArrhythmiaBrS Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia. J Med Genet. 2014 51(1):35-44. doi: 10.1136/jmedgenet-2013-101917. 24136861