Paralogue Annotation for SCN5A residue 1781

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1781
Reference Amino Acid: E - Glutamate
Protein Domain: C-terminus

Paralogue Variants mapped to SCN5A residue 1781

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	E1795K	Generalized epilepsy with febrile seizures plus	High	9	20600615

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	FFTTYIIISFLIVVNMYIAIILENFSVATE>E<STEPLSEDDFDMFYEIWEKFDPEATQFIEY	1811
SCN1A	FFVSYIIISFLVVVNMYIAVILENFSVATE>E<SAEPLSEDDFEMFYEVWEKFDPDATQFMEF	1825
SCN2A	FFVSYIIISFLVVVNMYIAVILENFSVATE>E<SAEPLSEDDFEMFYEVWEKFDPDATQFIEF	1815
SCN3A	FFVSYIIISFLVVVNMYIAVILENFSVATE>E<SAEPLSEDDFEMFYEVWEKFDPDATQFIEF	1810
SCN4A	FFCSYIIISFLIVVNMYIAIILENFNVATE>E<SSEPLGEDDFEMFYETWEKFDPDATQFIAY	1637
SCN7A	YFVSYILISWLIIVNMYIVVVMEFLNIASK>K<KNKTLSEDDFRKFFQVWKRFDPDRTQYIDS	1535
SCN8A	FFVSYIIISFLIVVNMYIAIILENFSVATE>E<SADPLSEDDFETFYEIWEKFDPDATQFIEY	1805
SCN9A	YFVSYIIISFLVVVNMYIAVILENFSVATE>E<STEPLSEDDFEMFYEVWEKFDPDATQFIEF	1788
SCN10A	FFTTYIIISFLIMVNMYIAVILENFNVATE>E<STEPLSEDDFDMFYETWEKFDPEATQFITF	1761
SCN11A	YFVSYIIISFLIVVNMYIAVILENFNTATE>E<SEDPLGEDDFDIFYEVWEKFDPEATQFIKY	1643
CACNA1A	YFVSFIFLCSFLMLNLFVAVIMDNFEYLTR>D<SSI-LGPHHLDEYVRVWAEYDPAACGRIHY	1849
CACNA1B	YFVSFIFLCSFLMLNLFVAVIMDNFEYLTR>D<SSI-LGPHHLDEFIRVWAEYDPAACGRISY	1747
CACNA1C	YFISFYMLCAFLIINLFVAVIMDNFDYLTR>D<WSI-LGPHHLDEFKRIWAEYDPEAKGRIKH	1514
CACNA1D	YFISFYMLCAFLIINLFVAVIMDNFDYLTR>D<WSI-LGPHHLDEFKRIWSEYDPEAKGRIKH	1522
CACNA1E	YFVSFIFFCSFLMLNLFVAVIMDNFEYLTR>D<SSI-LGPHHLDEFVRVWAEYDRAACGRIHY	1761
CACNA1F	YFISFFMLCAFLIINLFVAVIMDNFDYLTR>D<WSI-LGPHHLDEFKRIWSEYDPGAKGRIKH	1479
CACNA1G	YFVSFVLTAQFVLVNVVIAVLMKHLEESNK>E<AKE---EAELEAELELEMKT-LSPQPHSPL	1886
CACNA1H	YFVTFVLVAQFVLVNVVVAVLMKHLEESNK>E<ARE---DAELDAEIELEMAQGPGSARRVDA	1896
CACNA1I	YFVSFVLTAQFVLINVVVAVLMKHLDDSNK>E<AQE---DAEMDAELELEMAHGLGPGPRLPT	1766
CACNA1S	YFISFYMLCAFLVINLFVAVIMDNFDYLTR>D<WSI-LGPHHLDEFKAIWAEYDPEAKGRIKH	1419
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E1781G	c.5342A>G	Inherited Arrhythmia	LQTS		SIFT: deleterious Polyphen: probably damaging
Reports		Inherited Arrhythmia	LQTS	Risk of life-threatening cardiac events among patients with long QT syndrome and multiple mutations. Heart Rhythm. 2013 10(3):378-82. doi: 10.1016/j.hrthm.2012.11.006. 23174487