Paralogue Annotation for SCN5A residue 1748

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1748
Reference Amino Acid: G - Glycine
Protein Domain: TM Domain 4


Paralogue Variants mapped to SCN5A residue 1748

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AG1762EMyoclonic epilepsy of infancyHigh9 17054684
SCN1AG1762GFebrile seizures ?High9 20452746

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.



SCN5ATGPPYCDPTLPN-S-NGSRGD---CGSPAV>G<ILFFTTYIIISFLIVVNMYIAIILENFSVA1778
SCN1ASKPPDCDPNKVN-PGSSVKGD---CGNPSV>G<IFFFVSYIIISFLVVVNMYIAVILENFSVA1792
SCN2ASGPPDCDPDKDH-PGSSVKGD---CGNPSV>G<IFFFVSYIIISFLVVVNMYIAVILENFSVA1782
SCN3ASAPPDCDPDTIH-PGSSVKGD---CGNPSV>G<IFFFVSYIIISFLVVVNMYIAVILENFSVA1777
SCN4ASGPPDCDPNLEN-PGTSVKGD---CGNPSI>G<ICFFCSYIIISFLIVVNMYIAIILENFNVA1604
SCN7ASKWSDCDPDKIN-PGTQVRGD---CGNPSV>G<IFYFVSYILISWLIIVNMYIVVVMEFLNIA1502
SCN8A-RPPDCSLDKEH-PGSGFKGD---CGNPSV>G<IFFFVSYIIISFLIVVNMYIAIILENFSVA1772
SCN9ASKPPDCDPKKVH-PGSSVEGD---CGNPSV>G<IFYFVSYIIISFLVVVNMYIAVILENFSVA1755
SCN10ATGPPYCDPNLPN-S-NGTRGD---CGSPAV>G<IIFFTTYIIISFLIMVNMYIAVILENFNVA1728
SCN11ASKES-CN---------SSSEN---CHLPGI>A<TSYFVSYIIISFLIVVNMYIAVILENFNTA1610
CACNA1AG--KPCDKNSGIL-----T-R--ECGN-EF>A<YFYFVSFIFLCSFLMLNLFVAVIMDNFEYL1817
CACNA1BN--QACDE---Q------A-NATECGS-DF>A<YFYFVSFIFLCSFLMLNLFVAVIMDNFEYL1715
CACNA1CG--KKCAPESEP-SNSTEGETP--CGS-SF>A<VFYFISFYMLCAFLIINLFVAVIMDNFDYL1482
CACNA1DG--KLCDPESDY--NPGE-EYT--CGS-NF>A<IVYFISFYMLCAFLIINLFVAVIMDNFDYL1490
CACNA1EE--KGCEPDTTAPSGQNEN-E--RCGT-DL>A<YVYFVSFIFFCSFLMLNLFVAVIMDNFEYL1729
CACNA1FG--NRCDPESDF--GPGE-EFT--CGS-NF>A<IAYFISFFMLCAFLIINLFVAVIMDNFDYL1447
CACNA1GD----CDQEST-----C-------YNT-VI>S<PIYFVSFVLTAQFVLVNVVIAVLMKHLEES1857
CACNA1HE----CSREDKH----C---LS--YLP-AL>S<PVYFVTFVLVAQFVLVNVVVAVLMKHLEES1866
CACNA1ID----CTHDERS----C---LS--SLQ-FV>S<PLYFVSFVLTAQFVLINVVVAVLMKHLDDS1736
CACNA1SG--KLCDPESDY--APGE-EYT--CGT-NF>A<YYYFISFYMLCAFLVINLFVAVIMDNFDYL1387
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.G1748Dc.5243G>A Inherited ArrhythmiaBrSSIFT:
Polyphen:
ReportsInherited ArrhythmiaBrS p.D1690N Nav1.5 rescues p.G1748D mutation gating defects in a compound heterozygous Brugada syndrome patient. Heart Rhythm. 2013 10(2):264-72. doi: 10.1016/j.hrthm.2012.10.025. 23085483