Paralogue Annotation for SCN5A residue 812

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 812
Reference Amino Acid: L - Leucine
Protein Domain: TM Domain 2

Paralogue Variants mapped to SCN5A residue 812

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	L863W	Dravet syndrome	High	9	24168886

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	IIVILSLMELGLSRMS-----NLSVLRSFR>L<LRVFKLAKSWPTLNTLIKIIGNSVGALGNL	842
SCN1A	FIVTLSLVELGLANVE-----GLSVLRSFR>L<LRVFKLAKSWPTLNMLIKIIGNSVGALGNL	893
SCN2A	FIVSLSLMELGLANVE-----GLSVLRSFR>L<LRVFKLAKSWPTLNMLIKIIGNSVGALGNL	884
SCN3A	IIVSLSLMELGLSNVE-----GLSVLRSFR>L<LRVFKLAKSWPTLNMLIKIIGNSVGALGNL	885
SCN4A	IIVTLSLVELGLANVQ-----GLSVLRSFR>L<LRVFKLAKSWPTLNMLIKIIGNSVGALGNL	703
SCN7A	MIVFHGLIELCLANVA-----GMALLRLFR>M<LRIFKLGKYWPTFQILMWSLSNSWVALKDL	630
SCN8A	FIVSLSLMELSLADVE-----GLSVLRSFR>L<LRVFKLAKSWPTLNMLIKIIGNSVGALGNL	878
SCN9A	LIVTLSLVELFLADVE-----GLSVLRSFR>L<LRVFKLAKSWPTLNMLIKIIGNSVGALGNL	858
SCN10A	IIVTVSLLELGVAKKG-----SLSVLRSFR>L<LRVFKLAKSWPTLNTLIKIIGNSVGALGNL	790
SCN11A	IVALLSFADVMNCVLQKR---SWPFLRSFR>V<LRVFKLAKSWPTLNTLIKIIGNSVGALGSL	704
CACNA1A	GVIIGSIFEVIWAVIKPGTSFGISVLRALR>L<LRIFKVTKYWASLRNLVVSLLNSMKSIISL	617
CACNA1B	GVIVGSVFEVVWAAIKPGSSFGISVLRALR>L<LRIFKVTKYWSSLRNLVVSLLNSMKSIISL	613
CACNA1C	FVVCGGILETILVETKIMSPLGISVLRCVR>L<LRIFKITRYWNSLSNLVASLLNSVRSIASL	654
CACNA1D	FVVCGGITETILVELEIMSPLGISVFRCVR>L<LRIFKVTRHWTSLSNLVASLLNSMKSIASL	673
CACNA1E	GVTVGSIFEVVWAIFRPGTSFGISVLRALR>L<LRIFKITKYWASLRNLVVSLMSSMKSIISL	606
CACNA1F	FVVCGGILETTLVEVGAMQPLGISVLRCVR>L<LRIFKVTRHWASLSNLVASLLNSMKSIASL	659
CACNA1G	VIVVISVWEIVGQQGG-----GLSVLRTFR>L<MRVLKLVRFLPALQRQLVVLMKTMDNVATF	868
CACNA1H	IIVVISVWEIVGQADG-----GLSVLRTFR>L<LRVLKLVRFLPALRRQLVVLVKTMDNVATF	918
CACNA1I	IIVIISIWEIVGQADG-----GLSVLRTFR>L<LRVLKLVRFMPALRRQLVVLMKTMDNVATF	765
CACNA1S	FVVCSGILEILLVESGAMTPLGISVLRCIR>L<LRIFKITKYWTSLSNLVASLLNSIRSIASL	562
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L812Q	c.2435T>A	Inherited Arrhythmia	BrS		SIFT: Polyphen:
Reports		Inherited Arrhythmia	BrS	De Novo Mutation in the SCN5A Gene Associated with Brugada Syndrome. Cell Physiol Biochem. 2015 36(6):2250-62. doi: 10.1159/000430189. 26279430