Paralogue Annotation for SCN5A residue 1468

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1468
Reference Amino Acid: V - Valine
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1468

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN4AV1293IParamyotonia congenitaHigh9 8580427, 24939454

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.



SCN5APQWEYNLYMYIYFVIFIIFGSFFTLNLFIG>V<IIDNFNQQKKKLGGQDIFMTEEQKKYY---1495
SCN1APKYEESLYMYLYFVIFIIFGSFFTLNLFIG>V<IIDNFNQQKKKFGGQDIFMTEEQKKYY---1508
SCN2APKYEDNLYMYLYFVIFIIFGSFFTLNLFIG>V<IIDNFNQQKKKFGGQDIFMTEEQKKYY---1498
SCN3APVYEENLYMYLYFVIFIIFGSFFTLNLFIG>V<IIDNFNQQKKKFGGQDIFMTEEQKKYY---1493
SCN4APQYEVNLYMYLYFVIFIIFGSFFTLNLFIG>V<IIDNFNQQKKKLGGKDIFMTEEQKKYY---1320
SCN7APHFEVNIYMYCYFINFIIFGVFLPLSMLIT>V<IIDNFNKHKIKLGGSNIFITVKQRKQY---1218
SCN8APKYEDNIYMYIYFVIFIIFGSFFTLNLFIG>V<IIDNFNQQKKKFGGQDIFMTEEQKKYY---1489
SCN9APKYEYSLYMYIYFVVFIIFGSFFTLNLFIG>V<IIDNFNQQKKKLGGQDIFMTEEQKKYY---1471
SCN10APKWEDNVYMYLYFVIFIIFGGFFTLNLFVG>V<IIDNFNQQKKKLGGQDIFMTEEQKKYY---1443
SCN11APEFESNSLGYIYFVVFIIFGSFFTLNLFIG>V<IIDNFNQQQKKLGGQDIFMTEEQKKYY---1333
CACNA1APSPGYRMEMSIFYVVYFVVFPFFFVNIFVA>L<IIITFQEQGDKM----MEEYSLEKNER---1532
CACNA1BPSPGYRMELSIFYVVYFVVFPFFFVNIFVA>L<IIITFQEQGDKV----MSECSLEKNER---1438
CACNA1CPIYNYRVEISIFFIIYIIIIAFFMMNIFVG>F<VIVTFQEQGEQE----YKNCELDKNQR---1187
CACNA1DPIYNHRVEISIFFIIYIIIVAFFMMNIFVG>F<VIVTFQEQGEKE----YKNCELDKNQR---1193
CACNA1EPSRSNRMEMSIFYVVYFVVFPFFFVNIFVA>L<IIITFQEQGDKM----MEECSLEKNER---1444
CACNA1FPIYNYRVEISVFFIVYIIIIAFFMMNIFVG>F<VIITFRAQGEQE----YQNCELDKNQR---1158
CACNA1GPIMNHNPWMLLYFISFLLIVAFFVLNMFVG>V<VVENFHKCRQHQEEEEARRREEKRLRRLEK1565
CACNA1HPVQNHNPWMLLYFISFLLIVSFFVLNMFVG>V<VVENFHKCRQHQEAEEARRREEK-------1576
CACNA1IPVTNHNPWMLLYFISFLLIVSFFVLNMFVG>V<VVENFHKCRQHQEAEEARRREEK-------1452
CACNA1SPIYNNRVEMAIFFIIYIILIAFFMMNIFVG>F<VIVTFQEQGETE----YKNCELDKNQR---1086
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V1468Fc.4402G>T Inherited ArrhythmiaBrSSIFT: 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
p.Val1468Alac.4403T>C UnknownSIFT:
Polyphen: