Paralogue Annotation for SCN5A residue 806

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 806
Reference Amino Acid: V - Valine
Protein Domain: TM Domain 2

Paralogue Variants mapped to SCN5A residue 806

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
CACNA1A	V581M	Hemiplegic migraine	High	9	18644040, 21431381
CACNA1A	V581L	Hemiplegic migraine, cerebellar dysfunction & cogn	High	9	21035146

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	WNIFDSIIVILSLMELGLSRMS-----NLS>V<LRSFRLLRVFKLAKSWPTLNTLIKIIGNSV	836
SCN1A	WNIFDGFIVTLSLVELGLANVE-----GLS>V<LRSFRLLRVFKLAKSWPTLNMLIKIIGNSV	887
SCN2A	WNIFDGFIVSLSLMELGLANVE-----GLS>V<LRSFRLLRVFKLAKSWPTLNMLIKIIGNSV	878
SCN3A	WNIFDGIIVSLSLMELGLSNVE-----GLS>V<LRSFRLLRVFKLAKSWPTLNMLIKIIGNSV	879
SCN4A	WNIFDSIIVTLSLVELGLANVQ-----GLS>V<LRSFRLLRVFKLAKSWPTLNMLIKIIGNSV	697
SCN7A	WNIFDSMIVFHGLIELCLANVA-----GMA>L<LRLFRMLRIFKLGKYWPTFQILMWSLSNSW	624
SCN8A	WNIFDGFIVSLSLMELSLADVE-----GLS>V<LRSFRLLRVFKLAKSWPTLNMLIKIIGNSV	872
SCN9A	WNIFDSLIVTLSLVELFLADVE-----GLS>V<LRSFRLLRVFKLAKSWPTLNMLIKIIGNSV	852
SCN10A	WNIFDCIIVTVSLLELGVAKKG-----SLS>V<LRSFRLLRVFKLAKSWPTLNTLIKIIGNSV	784
SCN11A	WNIFDSIVALLSFADVMNCVLQKR---SWP>F<LRSFRVLRVFKLAKSWPTLNTLIKIIGNSV	698
CACNA1A	FNCFDCGVIIGSIFEVIWAVIKPGTSFGIS>V<LRALRLLRIFKVTKYWASLRNLVVSLLNSM	611
CACNA1B	FNCFDFGVIVGSVFEVVWAAIKPGSSFGIS>V<LRALRLLRIFKVTKYWSSLRNLVVSLLNSM	607
CACNA1C	FNRFDCFVVCGGILETILVETKIMSPLGIS>V<LRCVRLLRIFKITRYWNSLSNLVASLLNSV	648
CACNA1D	FNRFDCFVVCGGITETILVELEIMSPLGIS>V<FRCVRLLRIFKVTRHWTSLSNLVASLLNSM	667
CACNA1E	FNCFDFGVTVGSIFEVVWAIFRPGTSFGIS>V<LRALRLLRIFKITKYWASLRNLVVSLMSSM	600
CACNA1F	FNRFDCFVVCGGILETTLVEVGAMQPLGIS>V<LRCVRLLRIFKVTRHWASLSNLVASLLNSM	653
CACNA1G	YNIFDGVIVVISVWEIVGQQGG-----GLS>V<LRTFRLMRVLKLVRFLPALQRQLVVLMKTM	862
CACNA1H	YNIFDGIIVVISVWEIVGQADG-----GLS>V<LRTFRLLRVLKLVRFLPALRRQLVVLVKTM	912
CACNA1I	YNIFDSIIVIISIWEIVGQADG-----GLS>V<LRTFRLLRVLKLVRFMPALRRQLVVLMKTM	759
CACNA1S	FNRFDCFVVCSGILEILLVESGAMTPLGIS>V<LRCIRLLRIFKITKYWTSLSNLVASLLNSI	556
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V806M	c.2416G>A	Putative Benign			SIFT: Polyphen: