Paralogue Annotation for SCN5A residue 1441

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1441
Reference Amino Acid: E - Glutamate
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1441

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1AG1483REpisodic ataxia 2Medium9 15173248
SCN1AE1454KDravet 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.



SCN5AALLQVATFKGWMDIMYAAVDSRGYEEQPQW>E<YNLYMYIYFVIFIIFGSFFTLNLFIGVIID1471
SCN1ASLLQVATFKGWMDIMYAAVDSRNVELQPKY>E<ESLYMYLYFVIFIIFGSFFTLNLFIGVIID1484
SCN2ASLLQVATFKGWMDIMYAAVDSRNVELQPKY>E<DNLYMYLYFVIFIIFGSFFTLNLFIGVIID1474
SCN3AALLQVATFKGWMDIMYAAVDSRDVKLQPVY>E<ENLYMYLYFVIFIIFGSFFTLNLFIGVIID1469
SCN4ASLLQVATFKGWMDIMYAAVDSREKEEQPQY>E<VNLYMYLYFVIFIIFGSFFTLNLFIGVIID1296
SCN7ASLLQVATFNGWITIMNSAIDSVAVNIQPHF>E<VNIYMYCYFINFIIFGVFLPLSMLITVIID1194
SCN8AALLQVATFKGWMDIMYAAVDSRKPDEQPKY>E<DNIYMYIYFVIFIIFGSFFTLNLFIGVIID1465
SCN9ASLLQVATFKGWTIIMYAAVDSVNVDKQPKY>E<YSLYMYIYFVVFIIFGSFFTLNLFIGVIID1447
SCN10AALLQVATFKGWMDIMYAAVDSREVNMQPKW>E<DNVYMYLYFVIFIIFGGFFTLNLFVGVIID1419
SCN11AALLQVATFKGWMDIIYAAVDSTEKEQQPEF>E<SNSLGYIYFVVFIIFGSFFTLNLFIGVIID1309
CACNA1ATLFTVSTGEGWPQVLKHSVDATFENQGPSP>G<YRMEMSIFYVVYFVVFPFFFVNIFVALIII1512
CACNA1BTLFTVSTGEGWPMVLKHSVDATYEEQGPSP>G<YRMELSIFYVVYFVVFPFFFVNIFVALIII1418
CACNA1CALFTVSTFEGWPELLYRSIDSHTEDKGPIY>N<YRVEISIFFIIYIIIIAFFMMNIFVGFVIV1167
CACNA1DALFTVSTFEGWPALLYKAIDSNGENIGPIY>N<HRVEISIFFIIYIIIVAFFMMNIFVGFVIV1173
CACNA1ETLFTVSTGEGWPQVLQHSVDVTEEDRGPSR>S<NRMEMSIFYVVYFVVFPFFFVNIFVALIII1424
CACNA1FALFTVSTFEGWPALLYKAIDAYAEDHGPIY>N<YRVEISVFFIVYIIIIAFFMMNIFVGFVII1138
CACNA1GSLFVLASKDGWVDIMYDGLDAVGVDQQPIM>N<HNPWMLLYFISFLLIVAFFVLNMFVGVVVE1538
CACNA1HSLFVLSSKDGWVNIMYDGLDAVGVDQQPVQ>N<HNPWMLLYFISFLLIVSFFVLNMFVGVVVE1556
CACNA1ISLFVLASKDGWVNIMYNGLDAVAVDQQPVT>N<HNPWMLLYFISFLLIVSFFVLNMFVGVVVE1432
CACNA1SSLFTVSTFEGWPQLLYKAIDSNAEDVGPIY>N<NRVEMAIFFIIYIILIAFFMMNIFVGFVIV1066
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E1441Qc.4321G>C Inherited ArrhythmiaBrSrs199473249SIFT: 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