Paralogue Annotation for SCN5A residue 1825

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1825
Reference Amino Acid: L - Leucine
Protein Domain: C-terminus


Paralogue Variants mapped to SCN5A residue 1825

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AL1839VDravet syndromeHigh8 24168886
SCN1AL1839PDravet syndromeHigh8 26438699
SCN2AL1829FEpileptic encephalopathy, early infantileHigh8 26993267

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.



SCN5AYEIWEKFDPEATQFIEYSVLSDFADALSEP>L<R--IAK--PNQI---SLINMDLPMVSGD-R1847
SCN1AYEVWEKFDPDATQFMEFEKLSQFAAALEPP>L<N--LPQ--PNKL---QLIAMDLPMVSGD-R1861
SCN2AYEVWEKFDPDATQFIEFAKLSDFADALDPP>L<L--IAK--PNKV---QLIAMDLPMVSGD-R1851
SCN3AYEVWEKFDPDATQFIEFSKLSDFAAALDPP>L<L--IAK--PNKV---QLIAMDLPMVSGD-R1846
SCN4AYETWEKFDPDATQFIAYSRLSDFVDTLQEP>L<R--IAK--PNKI---KLITLDLPMVPGD-K1673
SCN7AFQVWKRFDPDRTQYIDSSKLSDFAAALDPP>L<F--MAK--PNKG---QLIALDLPMAVGD-R1571
SCN8AYEIWEKFDPDATQFIEYCKLADFADALEHP>L<R--VPK--PNTI---ELIAMDLPMVSGD-R1841
SCN9AYEVWEKFDPDATQFIEFSKLSDFAAALDPP>L<L--IAK--PNKV---QLIAMDLPMVSGD-R1824
SCN10AYETWEKFDPEATQFITFSALSDFADTLSGP>L<R--IPK--PNRN---ILIQMDLPLVPGD-K1797
SCN11AYEVWEKFDPEATQFIKYSALSDFADALPEP>L<R--VAK--PNKY---QFLVMDLPMVSED-R1679
CACNA1AVRVWAEYDPAACGRIHYKDMYSLLRVISPP>L<G--LGKKCPHRVACKRLLRMDLPVADD-NT1890
CACNA1BIRVWAEYDPAACGRISYNDMFEMLKHMSPP>L<G--LGKKCPARVAYKRLVRMNMPISNEDMT1789
CACNA1CKRIWAEYDPEAKGRIKHLDVVTLLRRIQPP>L<G--FGKLCPHRVACKRLVSMNMPLNSDG-T1555
CACNA1DKRIWSEYDPEAKGRIKHLDVVTLLRRIQPP>L<G--FGKLCPHRVACKRLVAMNMPLNSDG-T1563
CACNA1EVRVWAEYDRAACGRIHYTEMYEMLTLMSPP>L<G--LGKRCPSKVAYKRLVLMNMPVAED-MT1802
CACNA1FKRIWSEYDPGAKGRIKHLDVVALLRRIQPP>L<G--FGKLCPHRVACKRLVAMNMPLNSDG-T1520
CACNA1GLELEMKT-LSPQPHSPLGSPF-LWPGVEGP>D<S--PDSPKPGAL---------HPAAHA-RS1917
CACNA1HIELEMAQGPGSARRVDADRP---------P>L<P--QESPG--AR--------DAPN------1913
CACNA1ILELEMAHGLGPGPRLPTGSPGAPGR---GP>G<GAGGGGDT--EG---GLCRRCYSPAQE-N-1800
CACNA1SKAIWAEYDPEAKGRIKHLDVVTLLRRIQPP>L<G--FGKFCPHRVACKRLVGMNMPLNSDG-T1460
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L1825Pc.5474T>C Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: probably damaging
ReportsOther Cardiac Phenotype Drug-induced long-QT syndrome associated with a subclinical SCN5A mutation. Circulation. 2002 106(10):1269-74. 12208804
Inherited ArrhythmiaLQTS Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients. J Mol Med (Berl). 2004 82(3):182-8. 14760488
Other Cardiac Phenotype Latent genetic backgrounds and molecular pathogenesis in drug-induced long-QT syndrome. Circ Arrhythm Electrophysiol. 2009 2(5):511-23. 19843919