Paralogue Annotation for SCN5A residue 315

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 315
Reference Amino Acid: L - Leucine
Protein Domain: TM Domain 1

Paralogue Variants mapped to SCN5A residue 315

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	Y325C	Myoclonic epilepsy of infancy	Medium	7	23821540
SCN1A	Y325X	Dravet syndrome	Medium	7	23821540

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	--------VEADGLVWESLDLYLSD-PENY>L<LKNGTSDVLLCGNSSDAG-T-C-PEGYRCL	342
SCN1A	--------ETVFEF---DWKSYIQD-SRYH>Y<FLEGFLDALLCGNSSDAG-Q-C-PEGYMCV	352
SCN2A	--------RTVSIF---NWDEYIED-KSHF>Y<FLEGQNDALLCGNSSDAG-Q-C-PEGYICV	354
SCN3A	--------VTMSTF---NWKDYIGD-DSHF>Y<VLDGQKDPLLCGNGSDAG-Q-C-PEGYICV	353
SCN4A	TWNSHASWATNDTF---DWDAYISD-EGNF>Y<FLEGSNDALLCGNSSDAG-H-C-PEGYECI	376
SCN7A	--------RTG-------NPYYIRE-TENF>Y<YLEGERYALLCGNRTDAG-Q-C-PEGYVCV	323
SCN8A	--------NGTKGF---DWEEYINN-KTNF>Y<TVPGMLEPLLCGNSSDAG-Q-C-PEGYQCM	340
SCN9A	--------IMNTLE---SEEDF----RKYF>Y<YLEGSKDALLCGFSTDSG-Q-C-PEGYTCV	331
SCN10A	------------Y------S-SHRK-PDIY>I<NKRGTSDPLLCGNGSDSG-H-C-PDGYICL	326
SCN11A	------------------PE---AY-DHCF>E<KKENSPEFKMCGIWMGNS-A-C-SIQYECK	329
CACNA1A	------------------------------>-<---E--SPAPCGTEEPA-RT-C-PNGTKCQ	288
CACNA1B	------------------------------>-<---V--GDFPCGKEAPA-RL-C-EGDTECR	284
CACNA1C	------------------------------>-<---D--DPSPCALETGHGRQ-CQN-GTVCK	333
CACNA1D	------------------------------>-<---E--DPAPCAFSGNGR-Q-CTANGTECR	334
CACNA1E	------------------------------>-<---D--PPHPCGVQG------C-PAGYEC-	279
CACNA1F	------------------------------>-<---E--DPSPCASSGSGR-A-CTLNQTECR	300
CACNA1G	-MRSCRSVPTLRGD---GGGGPPCG-LDYE>A<YNS---------SSNTTC-VNWNQYYTNCS	324
CACNA1H	-MQKCSHIPGRRE------LRMPCT-LGWE>A<YTQP--QAEGVGAARNAC-INWNQYYNVCR	348
CACNA1I	-IMGCHEIPPLKE------QGRECCLSKDD>V<YDFG--AGRQDLNASGLC-VNWNRYYNVCR	327
CACNA1S	------------------------------>-<---E--EPSPCARTGSGR-R-CTINGSECR	262
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L315P	c.944T>C	Inherited Arrhythmia	BrS	rs199473564	SIFT: deleterious Polyphen: benign
Reports		Inherited Arrhythmia	BrS	An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm. 2010 7(1):33-46. 20129283