Paralogue Annotation for SCN5A residue 840

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 840
Reference Amino Acid: G - Glycine
Protein Domain: TM Domain 2

Paralogue Variants mapped to SCN5A residue 840

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN9A	G856D	Pain, dysautonomia & acromesomelia	High	9	22286749, 22035805

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	FRLLRVFKLAKSWPTLNTLIKIIGNSVGAL>G<NLTLVLAIIVFIFAVVGMQLFGKNYSEL-R	869
SCN1A	FRLLRVFKLAKSWPTLNMLIKIIGNSVGAL>G<NLTLVLAIIVFIFAVVGMQLFGKSYKDC-V	920
SCN2A	FRLLRVFKLAKSWPTLNMLIKIIGNSVGAL>G<NLTLVLAIIVFIFAVVGMQLFGKSYKEC-V	911
SCN3A	FRLLRVFKLAKSWPTLNMLIKIIGNSVGAL>G<NLTLVLAIIVFIFAVVGMQLFGKSYKEC-V	912
SCN4A	FRLLRVFKLAKSWPTLNMLIKIIGNSVGAL>G<NLTLVLAIIVFIFAVVGMQLFGKSYKEC-V	730
SCN7A	FRMLRIFKLGKYWPTFQILMWSLSNSWVAL>K<DLVLLLFTFIFFSAAFGMKLFGKNYEEF-V	657
SCN8A	FRLLRVFKLAKSWPTLNMLIKIIGNSVGAL>G<NLTLVLAIIVFIFAVVGMQLFGKSYKEC-V	905
SCN9A	FRLLRVFKLAKSWPTLNMLIKIIGNSVGAL>G<NLTLVLAIIVFIFAVVGMQLFGKSYKEC-V	885
SCN10A	FRLLRVFKLAKSWPTLNTLIKIIGNSVGAL>G<NLTIILAIIVFVFALVGKQLLGENYRNN-R	817
SCN11A	FRVLRVFKLAKSWPTLNTLIKIIGNSVGAL>G<SLTVVLVIVIFIFSVVGMQLFGRSFNSQ-K	731
CACNA1A	LRLLRIFKVTKYWASLRNLVVSLLNSMKSI>I<SLLFLLFLFIVVFALLGMQLFGGQFNFD-E	644
CACNA1B	LRLLRIFKVTKYWSSLRNLVVSLLNSMKSI>I<SLLFLLFLFIVVFALLGMQLFGGQFNFQ-D	640
CACNA1C	VRLLRIFKITRYWNSLSNLVASLLNSVRSI>A<SLLLLLFLFIIIFSLLGMQLFGGKFNFD-E	681
CACNA1D	VRLLRIFKVTRHWTSLSNLVASLLNSMKSI>A<SLLLLLFLFIIIFSLLGMQLFGGKFNFD-E	700
CACNA1E	LRLLRIFKITKYWASLRNLVVSLMSSMKSI>I<SLLFLLFLFIVVFALLGMQLFGGRFNFN-D	633
CACNA1F	VRLLRIFKVTRHWASLSNLVASLLNSMKSI>A<SLLLLLFLFIIIFSLLGMQLFGGKFNFD-Q	686
CACNA1G	FRLMRVLKLVRFLPALQRQLVVLMKTMDNV>A<TFCMLLMLFIFIFSILGMHLFGCKFASER-	895
CACNA1H	FRLLRVLKLVRFLPALRRQLVVLVKTMDNV>A<TFCTLLMLFIFIFSILGMHLFGCKFSLKTD	946
CACNA1I	FRLLRVLKLVRFMPALRRQLVVLMKTMDNV>A<TFCMLLMLFIFIFSILGMHIFGCKFSLRTD	793
CACNA1S	IRLLRIFKITKYWTSLSNLVASLLNSIRSI>A<SLLLLLFLFIVIFALLGMQLFGGRYDFE-D	589
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G840R	c.2518G>C	Inherited Arrhythmia	LQTS	rs199473585	SIFT: deleterious Polyphen: probably damaging
Reports		Inherited Arrhythmia	LQTS	The genetic basis of long QT and short QT syndromes: a mutation update. Hum Mutat. 2009 30(11):1486-511. 19862833