Paralogue Annotation for SCN5A residue 1412

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1412
Reference Amino Acid: L - Leucine
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1412

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1FL1079PNight blindness, congenital stationary, incompleteHigh9 12111638, 15634789

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.



SCN5ACESLNLTGE--LYWTKVKVNFDNVGAGYLA>L<LQVATFKGWMDIMYAAVDSRGYEEQPQWEY1442
SCN1ACLKLIERNET-ARWKNVKVNFDNVGFGYLS>L<LQVATFKGWMDIMYAAVDSRNVELQPKYEE1455
SCN2ACKALIESNQT-ARWKNVKVNFDNVGLGYLS>L<LQVATFKGWMDIMYAAVDSRNVELQPKYED1445
SCN3ACQALGK--Q--ARWKNVKVNFDNVGAGYLA>L<LQVATFKGWMDIMYAAVDSRDVKLQPVYEE1440
SCN4ACESLMHTGQ--VRWLNVKVNYDNVGLGYLS>L<LQVATFKGWMDIMYAAVDSREKEEQPQYEV1267
SCN7ACESLLFNES--MLWENAKMNFDNVGNGFLS>L<LQVATFNGWITIMNSAIDSVAVNIQPHFEV1165
SCN8ACEKLMEGNNTEIRWKNVKINFDNVGAGYLA>L<LQVATFKGWMDIMYAAVDSRKPDEQPKYED1436
SCN9ACFALMNVSQN-VRWKNLKVNFDNVGLGYLS>L<LQVATFKGWTIIMYAAVDSVNVDKQPKYEY1418
SCN10ACKIQNSTGS--FFWVNVKVNFDNVAMGYLA>L<LQVATFKGWMDIMYAAVDSREVNMQPKWED1390
SCN11ACESGN------FSWINQKVNFDNVGNAYLA>L<LQVATFKGWMDIIYAAVDSTEKEQQPEFES1280
CACNA1AVK----AR--DREWKKYEFHYDNVLWALLT>L<FTVSTGEGWPQVLKHSVDATFENQGPSPGY1483
CACNA1BVE----AQ--PRQWKKYDFHYDNVLWALLT>L<FTVSTGEGWPMVLKHSVDATYEEQGPSPGY1389
CACNA1CVDHP-IIQ--PRSWENSKFDFDNVLAAMMA>L<FTVSTFEGWPELLYRSIDSHTEDKGPIYNY1138
CACNA1DVDSP-VVR--ERIWQNSDFNFDNVLSAMMA>L<FTVSTFEGWPALLYKAIDSNGENIGPIYNH1144
CACNA1EME----VK--GREWKRHEFHYDNIIWALLT>L<FTVSTGEGWPQVLQHSVDVTEEDRGPSRSN1395
CACNA1FVSRP-LVR--ERLWVNSDFNFDNVLSAMMA>L<FTVSTFEGWPALLYKAIDAYAEDHGPIYNY1109
CACNA1GCA----EA--SYRWVRHKYNFDNLGQALMS>L<FVLASKDGWVDIMYDGLDAVGVDQQPIMNH1509
CACNA1HCR----AA--HYRWVRRKYNFDNLGQALMS>L<FVLSSKDGWVNIMYDGLDAVGVDQQPVQNH1527
CACNA1ICM----AA--NYRWVHHKYNFDNLGQALMS>L<FVLASKDGWVNIMYNGLDAVAVDQQPVTNH1403
CACNA1SPMQI-ELR--HREWVHSDFHFDNVLSAMMS>L<FTVSTFEGWPQLLYKAIDSNAEDVGPIYNN1037
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L1412Fc.4234C>T Inherited ArrhythmiaBrSrs199473241SIFT: 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