Paralogue Annotation for SCN5A residue 1463

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1463
Reference Amino Acid: N - Asparagine
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1463

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AN1476KDravet syndrome B ?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.



SCN5AGYEEQPQWEYNLYMYIYFVIFIIFGSFFTL>N<LFIGVIIDNFNQQKKKLGGQDIFMTEEQKK1493
SCN1ANVELQPKYEESLYMYLYFVIFIIFGSFFTL>N<LFIGVIIDNFNQQKKKFGGQDIFMTEEQKK1506
SCN2ANVELQPKYEDNLYMYLYFVIFIIFGSFFTL>N<LFIGVIIDNFNQQKKKFGGQDIFMTEEQKK1496
SCN3ADVKLQPVYEENLYMYLYFVIFIIFGSFFTL>N<LFIGVIIDNFNQQKKKFGGQDIFMTEEQKK1491
SCN4AEKEEQPQYEVNLYMYLYFVIFIIFGSFFTL>N<LFIGVIIDNFNQQKKKLGGKDIFMTEEQKK1318
SCN7AAVNIQPHFEVNIYMYCYFINFIIFGVFLPL>S<MLITVIIDNFNKHKIKLGGSNIFITVKQRK1216
SCN8AKPDEQPKYEDNIYMYIYFVIFIIFGSFFTL>N<LFIGVIIDNFNQQKKKFGGQDIFMTEEQKK1487
SCN9ANVDKQPKYEYSLYMYIYFVVFIIFGSFFTL>N<LFIGVIIDNFNQQKKKLGGQDIFMTEEQKK1469
SCN10AEVNMQPKWEDNVYMYLYFVIFIIFGGFFTL>N<LFVGVIIDNFNQQKKKLGGQDIFMTEEQKK1441
SCN11AEKEQQPEFESNSLGYIYFVVFIIFGSFFTL>N<LFIGVIIDNFNQQQKKLGGQDIFMTEEQKK1331
CACNA1AFENQGPSPGYRMEMSIFYVVYFVVFPFFFV>N<IFVALIIITFQEQGDKM----MEEYSLEKN1530
CACNA1BYEEQGPSPGYRMELSIFYVVYFVVFPFFFV>N<IFVALIIITFQEQGDKV----MSECSLEKN1436
CACNA1CTEDKGPIYNYRVEISIFFIIYIIIIAFFMM>N<IFVGFVIVTFQEQGEQE----YKNCELDKN1185
CACNA1DGENIGPIYNHRVEISIFFIIYIIIVAFFMM>N<IFVGFVIVTFQEQGEKE----YKNCELDKN1191
CACNA1EEEDRGPSRSNRMEMSIFYVVYFVVFPFFFV>N<IFVALIIITFQEQGDKM----MEECSLEKN1442
CACNA1FAEDHGPIYNYRVEISVFFIVYIIIIAFFMM>N<IFVGFVIITFRAQGEQE----YQNCELDKN1156
CACNA1GGVDQQPIMNHNPWMLLYFISFLLIVAFFVL>N<MFVGVVVENFHKCRQHQEEEEARRREEKRL1560
CACNA1HGVDQQPVQNHNPWMLLYFISFLLIVSFFVL>N<MFVGVVVENFHKCRQHQEAEEARRREEK--1576
CACNA1IAVDQQPVTNHNPWMLLYFISFLLIVSFFVL>N<MFVGVVVENFHKCRQHQEAEEARRREEK--1452
CACNA1SAEDVGPIYNNRVEMAIFFIIYIILIAFFMM>N<IFVGFVIVTFQEQGETE----YKNCELDKN1084
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.N1463Yc.4387A>T Inherited ArrhythmiaBrSrs199473614SIFT: deleterious
Polyphen: benign
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