Paralogue Annotation for SCN5A residue 330

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 330
Reference Amino Acid: S - Serine
Protein Domain: TM Domain 1

Paralogue Variants mapped to SCN5A residue 330

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	S340F	Dravet syndrome	High	4	18930999

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	WESLDLYLSD-PENYLLKNGTSDVLLCGNS>S<DAG-T-C-PEGYRCLKAGENPDHGYTSFDS	357
SCN1A	--DWKSYIQD-SRYHYFLEGFLDALLCGNS>S<DAG-Q-C-PEGYMCVKAGRNPNYGYTSFDT	367
SCN2A	--NWDEYIED-KSHFYFLEGQNDALLCGNS>S<DAG-Q-C-PEGYICVKAGRNPNYGYTSFDT	369
SCN3A	--NWKDYIGD-DSHFYVLDGQKDPLLCGNG>S<DAG-Q-C-PEGYICVKAGRNPNYGYTSFDT	368
SCN4A	--DWDAYISD-EGNFYFLEGSNDALLCGNS>S<DAG-H-C-PEGYECIKTGRNPNYGYTSYDT	391
SCN7A	---NPYYIRE-TENFYYLEGERYALLCGNR>T<DAG-Q-C-PEGYVCVKAGINPDQGFTNFDS	338
SCN8A	--DWEEYINN-KTNFYTVPGMLEPLLCGNS>S<DAG-Q-C-PEGYQCMKAGRNPNYGYTSFDT	355
SCN9A	--SEEDF----RKYFYYLEGSKDALLCGFS>T<DSG-Q-C-PEGYTCVKIGRNPDYGYTSFDT	346
SCN10A	----S-SHRK-PDIYINKRGTSDPLLCGNG>S<DSG-H-C-PDGYICLKTSDNPDFNYTSFDS	341
SCN11A	---PE---AY-DHCFEKKENSPEFKMCGIW>M<GNS-A-C-SIQYECKHTKINPDYNYTNFDN	344
CACNA1A	-------------------E--SPAPCGTE>E<PA-RT-C-PNGTKCQPYWEGPNNGITQFDN	303
CACNA1B	-------------------V--GDFPCGKE>A<PA-RL-C-EGDTECREYWPGPNFGITNFDN	299
CACNA1C	-------------------D--DPSPCALE>T<GHGRQ-CQN-GTVCKPGWDGPKHGITNFDN	348
CACNA1D	-------------------E--DPAPCAFS>G<NGR-Q-CTANGTECRSGWVGPNGGITNFDN	349
CACNA1E	-------------------D--PPHPCGVQ>G<------C-PAGYEC-KDWIGPNDGITQFDN	294
CACNA1F	-------------------E--DPSPCASS>G<SGR-A-CTLNQTECRGRWPGPNGGITNFDN	315
CACNA1G	--GGGGPPCG-LDYEAYNS---------SS>N<TTC-VNWNQYYTNCSAGEHNPFKGAINFDN	339
CACNA1H	----LRMPCT-LGWEAYTQP--QAEGVGAA>R<NAC-INWNQYYNVCRSGDSNPHNGAINFDN	363
CACNA1I	----QGRECCLSKDDVYDFG--AGRQDLNA>S<GLC-VNWNRYYNVCRTGSANPHKGAINFDN	342
CACNA1S	-------------------E--EPSPCART>G<SGR-R-CTINGSECRGGWPGPNHGITHFDN	277
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S330F	c.989C>T	Putative Benign			SIFT: Polyphen: