Paralogue Annotation for SCN5A residue 1243

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1243
Reference Amino Acid: D - Aspartate
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1243

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN4AD1069YMyopathy, congenitalHigh9 26700687

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.



SCN5AFMILLSSGALAFEDIYLEERKTIKVLLEYA>D<KMFTYVFVLEMLLKWVAYGF----KKYFTN1269
SCN1AFMILLSSGALAFEDIYIDQRKTIKTMLEYA>D<KVFTYIFILEMLLKWVAYGY----QTYFTN1282
SCN2AFMILLSSGALAFEDIYIEQRKTIKTMLEYA>D<KVFTYIFILEMLLKWVAYGF----QVYFTN1272
SCN3AFMILLSSGALAFEDIYIEQRKTIKTMLEYA>D<KVFTYIFILEMLLKWVAYGF----QTYFTN1270
SCN4AFMILLSSGALAFEDIYIEQRRVIRTILEYA>D<KVFTYIFIMEMLLKWVAYGF----KVYFTN1095
SCN7ALVTLLSTGTLAFEDIYMDQRKTIKILLEYA>D<MIFTYIFILEMLLKWMAYGF----KAYFSN998
SCN8AFMILLSSGALAFEDIYIEQRKTIRTILEYA>D<KVFTYIFILEMLLKWTAYGF----VKFFTN1262
SCN9ALMILLSSGALAFEDIYIERKKTIKIILEYA>D<KIFTYIFILEMLLKWIAYGY----KTYFTN1245
SCN10AFMILLSSGSLAFEDYYLDQKPTVKALLEYT>D<RVFTFIFVFEMLLKWVAYGF----KKYFTN1216
SCN11AFVILLSSGALIFEDVHLENQPKIQELLNCT>D<IIFTHIFILEMVLKWVAFGF----GKYFTS1120
CACNA1AMVIAMSSIALAAEDPV-QPNAPRNNVLRYF>D<YVFTGVFTFEMVIKMIDLGLVLHQGAYFRD1311
CACNA1BVVIALSSIALAAEDPV-RTDSPRNNALKYL>D<YIFTGVFTFEMVIKMIDLGLLLHPGAYFRD1218
CACNA1CFFILLSSISLAAEDPV-QHTSFRNHILFYF>D<IVFTTIFTIEIALKMTAYGAFLHKGSFCRN967
CACNA1DVFIMLSSAALAAEDPI-RSHSFRNTILGYF>D<YAFTAIFTVEILLKMTTFGAFLHKGAFCRN973
CACNA1ELVIAASSIALAAEDPV-LTNSERNKVLRYF>D<YVFTGVFTFEMVIKMIDQGLILQDGSYFRD1220
CACNA1FVFIILSSVSLAAEDPI-RAHSFRNHILGYF>D<YAFTSIFTVEILLKMTVFGAFLHRGSFCRS938
CACNA1GVIIFLNCITIAMERPKIDPHSAERIFLTLS>N<YIFTAVFLAEMTVKVVALGWCFGEQAYLRS1344
CACNA1HVFIFLNCVTIALERPDIDPGSTERVFLSVS>N<YIFTAIFVAEMMVKVVALGLLSGEHAYLQS1362
CACNA1IAFIFLNCITIALERPQIEAGSTERIFLTVS>N<YIFTAIFVGEMTLKVVSLGLYFGEQAYLRS1238
CACNA1SLFILLSSAALAAEDPI-RADSMRNQILKHF>D<IGFTSVFTVEIVLKMTTYGAFLHKGSFCRN866
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.D1243Nc.3727G>A Inherited ArrhythmiaBrSSIFT: 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 High prevalence of genetic variants previously associated with Brugada syndrome in new exome data. Clin Genet. 2013 23414114
Inherited ArrhythmiaBrS Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer. Am J Hum Genet. 2016 98(5):801-17. doi: 10.1016/j.ajhg.2016.02.024. 27153395
Inherited ArrhythmiaBrS Comprehensive Genetic Characterization of a Spanish Brugada Syndrome Cohort. PLoS One. 2015 10(7):e0132888. doi: 10.1371/journal.pone.0132888. 26173111