Paralogue Annotation for SCN5A residue 1747

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1747
Reference Amino Acid: V - Valine
Protein Domain: TM Domain 4


Paralogue Variants mapped to SCN5A residue 1747

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN10AV1697IBrugada syndromeHigh9 24998131

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.



SCN5ANTGPPYCDPTLPN-S-NGSRGD---CGSPA>V<GILFFTTYIIISFLIVVNMYIAIILENFSV1777
SCN1ANSKPPDCDPNKVN-PGSSVKGD---CGNPS>V<GIFFFVSYIIISFLVVVNMYIAVILENFSV1791
SCN2ANSGPPDCDPDKDH-PGSSVKGD---CGNPS>V<GIFFFVSYIIISFLVVVNMYIAVILENFSV1781
SCN3ANSAPPDCDPDTIH-PGSSVKGD---CGNPS>V<GIFFFVSYIIISFLVVVNMYIAVILENFSV1776
SCN4ANSGPPDCDPNLEN-PGTSVKGD---CGNPS>I<GICFFCSYIIISFLIVVNMYIAIILENFNV1603
SCN7ANSKWSDCDPDKIN-PGTQVRGD---CGNPS>V<GIFYFVSYILISWLIIVNMYIVVVMEFLNI1501
SCN8AN-RPPDCSLDKEH-PGSGFKGD---CGNPS>V<GIFFFVSYIIISFLIVVNMYIAIILENFSV1771
SCN9ANSKPPDCDPKKVH-PGSSVEGD---CGNPS>V<GIFYFVSYIIISFLVVVNMYIAVILENFSV1754
SCN10ANTGPPYCDPNLPN-S-NGTRGD---CGSPA>V<GIIFFTTYIIISFLIMVNMYIAVILENFNV1727
SCN11ARSKES-CN---------SSSEN---CHLPG>I<ATSYFVSYIIISFLIVVNMYIAVILENFNT1609
CACNA1ASG--KPCDKNSGIL-----T-R--ECGN-E>F<AYFYFVSFIFLCSFLMLNLFVAVIMDNFEY1816
CACNA1BSN--QACDE---Q------A-NATECGS-D>F<AYFYFVSFIFLCSFLMLNLFVAVIMDNFEY1714
CACNA1CPG--KKCAPESEP-SNSTEGETP--CGS-S>F<AVFYFISFYMLCAFLIINLFVAVIMDNFDY1481
CACNA1DPG--KLCDPESDY--NPGE-EYT--CGS-N>F<AIVYFISFYMLCAFLIINLFVAVIMDNFDY1489
CACNA1EGE--KGCEPDTTAPSGQNEN-E--RCGT-D>L<AYVYFVSFIFFCSFLMLNLFVAVIMDNFEY1728
CACNA1FPG--NRCDPESDF--GPGE-EFT--CGS-N>F<AIAYFISFFMLCAFLIINLFVAVIMDNFDY1446
CACNA1GRD----CDQEST-----C-------YNT-V>I<SPIYFVSFVLTAQFVLVNVVIAVLMKHLEE1856
CACNA1HRE----CSREDKH----C---LS--YLP-A>L<SPVYFVTFVLVAQFVLVNVVVAVLMKHLEE1865
CACNA1IRD----CTHDERS----C---LS--SLQ-F>V<SPLYFVSFVLTAQFVLINVVVAVLMKHLDD1735
CACNA1SYG--KLCDPESDY--APGE-EYT--CGT-N>F<AYYYFISFYMLCAFLVINLFVAVIMDNFDY1386
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V1747Mc.5239G>A Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Long QT syndrome with compound mutations is associated with a more severe phenotype: a Japanese multicenter study. Heart Rhythm. 2010 7(10):1411-8. 20541041