Paralogue Annotation for SCN5A residue 1759

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1759
Reference Amino Acid: S - Serine
Protein Domain: TM Domain 4

Paralogue Variants mapped to SCN5A residue 1759

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	S1773F	Myoclonic epilepsy of infancy	High	9	17054684

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.

SCN5A	N-S-NGSRGD---CGSPAVGILFFTTYIII>S<FLIVVNMYIAIILENFSVATEESTEPLSED	1789
SCN1A	N-PGSSVKGD---CGNPSVGIFFFVSYIII>S<FLVVVNMYIAVILENFSVATEESAEPLSED	1803
SCN2A	H-PGSSVKGD---CGNPSVGIFFFVSYIII>S<FLVVVNMYIAVILENFSVATEESAEPLSED	1793
SCN3A	H-PGSSVKGD---CGNPSVGIFFFVSYIII>S<FLVVVNMYIAVILENFSVATEESAEPLSED	1788
SCN4A	N-PGTSVKGD---CGNPSIGICFFCSYIII>S<FLIVVNMYIAIILENFNVATEESSEPLGED	1615
SCN7A	N-PGTQVRGD---CGNPSVGIFYFVSYILI>S<WLIIVNMYIVVVMEFLNIASKKKNKTLSED	1513
SCN8A	H-PGSGFKGD---CGNPSVGIFFFVSYIII>S<FLIVVNMYIAIILENFSVATEESADPLSED	1783
SCN9A	H-PGSSVEGD---CGNPSVGIFYFVSYIII>S<FLVVVNMYIAVILENFSVATEESTEPLSED	1766
SCN10A	N-S-NGTRGD---CGSPAVGIIFFTTYIII>S<FLIMVNMYIAVILENFNVATEESTEPLSED	1739
SCN11A	-----SSSEN---CHLPGIATSYFVSYIII>S<FLIVVNMYIAVILENFNTATEESEDPLGED	1621
CACNA1A	IL-----T-R--ECGN-EFAYFYFVSFIFL>C<SFLMLNLFVAVIMDNFEYLTRDSSI-LGPH	1827
CACNA1B	Q------A-NATECGS-DFAYFYFVSFIFL>C<SFLMLNLFVAVIMDNFEYLTRDSSI-LGPH	1725
CACNA1C	P-SNSTEGETP--CGS-SFAVFYFISFYML>C<AFLIINLFVAVIMDNFDYLTRDWSI-LGPH	1492
CACNA1D	Y--NPGE-EYT--CGS-NFAIVYFISFYML>C<AFLIINLFVAVIMDNFDYLTRDWSI-LGPH	1500
CACNA1E	APSGQNEN-E--RCGT-DLAYVYFVSFIFF>C<SFLMLNLFVAVIMDNFEYLTRDSSI-LGPH	1739
CACNA1F	F--GPGE-EFT--CGS-NFAIAYFISFFML>C<AFLIINLFVAVIMDNFDYLTRDWSI-LGPH	1457
CACNA1G	-----C-------YNT-VISPIYFVSFVLT>A<QFVLVNVVIAVLMKHLEESNKEAKE---EA	1865
CACNA1H	H----C---LS--YLP-ALSPVYFVTFVLV>A<QFVLVNVVVAVLMKHLEESNKEARE---DA	1874
CACNA1I	S----C---LS--SLQ-FVSPLYFVSFVLT>A<QFVLINVVVAVLMKHLDDSNKEAQE---DA	1744
CACNA1S	Y--APGE-EYT--CGT-NFAYYYFISFYML>C<AFLVINLFVAVIMDNFDYLTRDWSI-LGPH	1397
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S1759C	c.5276C>G	Putative Benign			SIFT: Polyphen: