Paralogue Annotation for SCN5A residue 1819

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1819
Reference Amino Acid: D - Aspartate
Protein Domain: C-terminus


Paralogue Variants mapped to SCN5A residue 1819

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1CR1522QAutism spectrum disorderMedium9 23849776

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.



SCN5ADDFDMFYEIWEKFDPEATQFIEYSVLSDFA>D<ALSEPLR--IAK--PNQI---SLINMDLPM1842
SCN1ADDFEMFYEVWEKFDPDATQFMEFEKLSQFA>A<ALEPPLN--LPQ--PNKL---QLIAMDLPM1856
SCN2ADDFEMFYEVWEKFDPDATQFIEFAKLSDFA>D<ALDPPLL--IAK--PNKV---QLIAMDLPM1846
SCN3ADDFEMFYEVWEKFDPDATQFIEFSKLSDFA>A<ALDPPLL--IAK--PNKV---QLIAMDLPM1841
SCN4ADDFEMFYETWEKFDPDATQFIAYSRLSDFV>D<TLQEPLR--IAK--PNKI---KLITLDLPM1668
SCN7ADDFRKFFQVWKRFDPDRTQYIDSSKLSDFA>A<ALDPPLF--MAK--PNKG---QLIALDLPM1566
SCN8ADDFETFYEIWEKFDPDATQFIEYCKLADFA>D<ALEHPLR--VPK--PNTI---ELIAMDLPM1836
SCN9ADDFEMFYEVWEKFDPDATQFIEFSKLSDFA>A<ALDPPLL--IAK--PNKV---QLIAMDLPM1819
SCN10ADDFDMFYETWEKFDPEATQFITFSALSDFA>D<TLSGPLR--IPK--PNRN---ILIQMDLPL1792
SCN11ADDFDIFYEVWEKFDPEATQFIKYSALSDFA>D<ALPEPLR--VAK--PNKY---QFLVMDLPM1674
CACNA1AHHLDEYVRVWAEYDPAACGRIHYKDMYSLL>R<VISPPLG--LGKKCPHRVACKRLLRMDLPV1885
CACNA1BHHLDEFIRVWAEYDPAACGRISYNDMFEML>K<HMSPPLG--LGKKCPARVAYKRLVRMNMPI1783
CACNA1CHHLDEFKRIWAEYDPEAKGRIKHLDVVTLL>R<RIQPPLG--FGKLCPHRVACKRLVSMNMPL1550
CACNA1DHHLDEFKRIWSEYDPEAKGRIKHLDVVTLL>R<RIQPPLG--FGKLCPHRVACKRLVAMNMPL1558
CACNA1EHHLDEFVRVWAEYDRAACGRIHYTEMYEML>T<LMSPPLG--LGKRCPSKVAYKRLVLMNMPV1797
CACNA1FHHLDEFKRIWSEYDPGAKGRIKHLDVVALL>R<RIQPPLG--FGKLCPHRVACKRLVAMNMPL1515
CACNA1GAELEAELELEMKT-LSPQPHSPLGSPF-LW>P<GVEGPDS--PDSPKPGAL---------HPA1912
CACNA1HAELDAEIELEMAQGPGSARRVDADRP---->-<----PLP--QESPG--AR--------DAPN1913
CACNA1IAEMDAELELEMAHGLGPGPRLPTGSPGAPG>R<---GPGGAGGGGDT--EG---GLCRRCYSP1796
CACNA1SHHLDEFKAIWAEYDPEAKGRIKHLDVVTLL>R<RIQPPLG--FGKFCPHRVACKRLVGMNMPL1455
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.D1819Nc.5455G>A Inherited ArrhythmiaLQTS,AFSIFT: tolerated
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome. Clin Genet. 2006 70(3):214-27. 16922724
Inherited ArrhythmiaAF High prevalence of long QT syndrome-associated SCN5A variants in patients with early-onset lone atrial fibrillation. Circ Cardiovasc Genet. 2012 5(4):450-9. doi: 10.1161/CIRCGENETICS.111.962597. 22685113
Unknown Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart. 2015 101(4):294-301. doi: 10.1136/heartjnl-2014-306387. 25351510