Paralogue Annotation for SCN5A residue 349

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 349
Reference Amino Acid: D - Aspartate
Protein Domain: TM Domain 1

Paralogue Variants mapped to SCN5A residue 349

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	N359S	Dravet syndrome C ?	Medium	9	21248271, 24168886
SCN1A	N359T	Dravet syndrome	Medium	9	23708187
SCN1A	N359I	Dravet syndrome	Medium	9	23808377

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	DVLLCGNSSDAG-T-C-PEGYRCLKAGENP>D<HGYTSFDSFAWAFLALFRLMTQDCWERLYQ	379
SCN1A	DALLCGNSSDAG-Q-C-PEGYMCVKAGRNP>N<YGYTSFDTFSWAFLSLFRLMTQDFWENLYQ	389
SCN2A	DALLCGNSSDAG-Q-C-PEGYICVKAGRNP>N<YGYTSFDTFSWAFLSLFRLMTQDFWENLYQ	391
SCN3A	DPLLCGNGSDAG-Q-C-PEGYICVKAGRNP>N<YGYTSFDTFSWAFLSLFRLMTQDYWENLYQ	390
SCN4A	DALLCGNSSDAG-H-C-PEGYECIKTGRNP>N<YGYTSYDTFSWAFLALFRLMTQDYWENLFQ	413
SCN7A	YALLCGNRTDAG-Q-C-PEGYVCVKAGINP>D<QGFTNFDSFGWALFALFRLMAQDYPEVLYH	360
SCN8A	EPLLCGNSSDAG-Q-C-PEGYQCMKAGRNP>N<YGYTSFDTFSWAFLALFRLMTQDYWENLYQ	377
SCN9A	DALLCGFSTDSG-Q-C-PEGYTCVKIGRNP>D<YGYTSFDTFSWAFLALFRLMTQDYWENLYQ	368
SCN10A	DPLLCGNGSDSG-H-C-PDGYICLKTSDNP>D<FNYTSFDSFAWAFLSLFRLMTQDSWERLYQ	363
SCN11A	EFKMCGIWMGNS-A-C-SIQYECKHTKINP>D<YNYTNFDNFGWSFLAMFRLMTQDSWEKLYQ	366
CACNA1A	SPAPCGTEEPA-RT-C-PNGTKCQPYWEGP>N<NGITQFDNILFAVLTVFQCITMEGWTDLLY	325
CACNA1B	GDFPCGKEAPA-RL-C-EGDTECREYWPGP>N<FGITNFDNILFAILTVFQCITMEGWTDILY	321
CACNA1C	DPSPCALETGHGRQ-CQN-GTVCKPGWDGP>K<HGITNFDNFAFAMLTVFQCITMEGWTDVLY	370
CACNA1D	DPAPCAFSGNGR-Q-CTANGTECRSGWVGP>N<GGITNFDNFAFAMLTVFQCITMEGWTDVLY	371
CACNA1E	PPHPCGVQG------C-PAGYEC-KDWIGP>N<DGITQFDNILFAVLTVFQCITMEGWTTVLY	316
CACNA1F	DPSPCASSGSGR-A-CTLNQTECRGRWPGP>N<GGITNFDNFFFAMLTVFQCVTMEGWTDVLY	337
CACNA1G	------SSNTTC-VNWNQYYTNCSAGEHNP>F<KGAINFDNIGYAWIAIFQVITLEGWVDIMY	361
CACNA1H	QAEGVGAARNAC-INWNQYYNVCRSGDSNP>H<NGAINFDNIGYAWIAIFQVITLEGWVDIMY	385
CACNA1I	AGRQDLNASGLC-VNWNRYYNVCRTGSANP>H<KGAINFDNIGYAWIVIFQVITLEGWVEIMY	364
CACNA1S	EPSPCARTGSGR-R-CTINGSECRGGWPGP>N<HGITHFDNFGFSMLTVYQCITMEGWTDVLY	299
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See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D349N	c.1045G>A	Other Cardiac Phenotype			SIFT: tolerated Polyphen: probably damaging
Reports		Other Cardiac Phenotype		Autosomal recessive paediatric sick sinus syndrome associated with novel compound mutations in SCN5A. Int J Cardiol. 2012 23200271