Paralogue Annotation for SCN5A residue 1271

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1271
Reference Amino Acid: W - Tryptophan
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1271

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AW1284SDravet syndromeHigh9 18930999

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.



SCN5AMFTYVFVLEMLLKWVAYGF----KKYFTNA>W<CWLDFLIVDVSLVSLVAN-T----LGFAEM1296
SCN1AVFTYIFILEMLLKWVAYGY----QTYFTNA>W<CWLDFLIVDVSLVSLTAN-A----LGYSEL1309
SCN2AVFTYIFILEMLLKWVAYGF----QVYFTNA>W<CWLDFLIVDVSLVSLTAN-A----LGYSEL1299
SCN3AVFTYIFILEMLLKWVAYGF----QTYFTNA>W<CWLDFLIVDVSLVSLVAN-A----LGYSEL1297
SCN4AVFTYIFIMEMLLKWVAYGF----KVYFTNA>W<CWLDFLIVDVSIISLVAN-W----LGYSEL1122
SCN7AIFTYIFILEMLLKWMAYGF----KAYFSNG>W<YRLDFVVVIVFCLSLIGK-T----RE--E-1022
SCN8AVFTYIFILEMLLKWTAYGF----VKFFTNA>W<CWLDFLIVAVSLVSLIAN-A----LGYSEL1289
SCN9AIFTYIFILEMLLKWIAYGY----KTYFTNA>W<CWLDFLIVDVSLVTLVAN-T----LGYSDL1272
SCN10AVFTFIFVFEMLLKWVAYGF----KKYFTNA>W<CWLDFLIVNISLISLTAK-I----LEYSEV1243
SCN11AIFTHIFILEMVLKWVAFGF----GKYFTSA>W<CCLDFIIVIVSVTTLI---------N---L1140
CACNA1AVFTGVFTFEMVIKMIDLGLVLHQGAYFRDL>W<NILDFIVVSGALVAFAFTGN----SKGKDI1339
CACNA1BIFTGVFTFEMVIKMIDLGLLLHPGAYFRDL>W<NILDFIVVSGALVAFAFS-G----SKGKDI1245
CACNA1CVFTTIFTIEIALKMTAYGAFLHKGSFCRNY>F<NILDLLVVSVSLISF----G----IQSSAI991
CACNA1DAFTAIFTVEILLKMTTFGAFLHKGAFCRNY>F<NLLDMLVVGVSLVSF----G----IQSSAI997
CACNA1EVFTGVFTFEMVIKMIDQGLILQDGSYFRDL>W<NILDFVVVVGALVAFALANA-LGTNKGRDI1251
CACNA1FAFTSIFTVEILLKMTVFGAFLHRGSFCRSW>F<NMLDLLVVSVSLISF----G----IHSSAI962
CACNA1GIFTAVFLAEMTVKVVALGWCFGEQAYLRSS>W<NVLDGLLVLISVIDILVS-MVSD-SGTKIL1374
CACNA1HIFTAIFVAEMMVKVVALGLLSGEHAYLQSS>W<NLLDGLLVLVSLVDIVVA-MASA-GGAKIL1392
CACNA1IIFTAIFVGEMTLKVVSLGLYFGEQAYLRSS>W<NVLDGFLVFVSIIDIVVS-LASA-GGAKIL1268
CACNA1SGFTSVFTVEIVLKMTTYGAFLHKGSFCRNY>F<NMLDLLVVAVSLISM----G----LESSAI890
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.W1271Cc.3813G>C 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 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