Paralogue Annotation for SCN5A residue 1659

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1659
Reference Amino Acid: N - Asparagine
Protein Domain: TM Domain 4

Paralogue Variants mapped to SCN5A residue 1659

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	N1672I	Dravet syndrome C ?	High	9	21248271
SCN1A	N1672H	Dravet syndrome	High	9	24168886

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	RIGRILRLIRGAKGIRTLLFALMMSLPALF>N<IGLLLFLVMFIYSIFGMANFAYVKW-----	1684
SCN1A	RIGRILRLIKGAKGIRTLLFALMMSLPALF>N<IGLLLFLVMFIYAIFGMSNFAYVKR-----	1697
SCN2A	RIGRILRLIKGAKGIRTLLFALMMSLPALF>N<IGLLLFLVMFIYAIFGMSNFAYVKR-----	1687
SCN3A	RIGRILRLIKGAKGIRTLLFALMMSLPALF>N<IGLLLFLVMFIYAIFGMSNFAYVKK-----	1682
SCN4A	RIGRVLRLIRGAKGIRTLLFALMMSLPALF>N<IGLLLFLVMFIYSIFGMSNFAYVKK-----	1509
SCN7A	RIIHMLRLGKGPKVFHNLMLPLMLSLPALL>N<IILLIFLVMFIYAVFGMYNFAYVKK-----	1407
SCN8A	RIGRILRLIKGAKGIRTLLFALMMSLPALF>N<IGLLLFLVMFIFSIFGMSNFAYVKH-----	1678
SCN9A	RIGRILRLVKGAKGIRTLLFALMMSLPALF>N<IGLLLFLVMFIYAIFGMSNFAYVKK-----	1660
SCN10A	RIGRILRLIRAAKGIRTLLFALMMSLPALF>N<IGLLLFLVMFIYSIFGMSSFPHVRW-----	1634
SCN11A	RIGRILRLVRAARGIRTLLFALMMSLPSLF>N<IGLLLFLIMFIYAILGMNWFSKVNP-----	1524
CACNA1A	--ARLIKLLRQGYTIRILLWTFVQSFKALP>Y<VCLLIAMLFFIYAIIGMQVFGNIGIDVEDE	1724
CACNA1B	--ARLIKLLRQGYTIRILLWTFVQSFKALP>Y<VCLLIAMLFFIYAIIGMQVFGNIALDD---	1629
CACNA1C	--MRLVKLLSRGEGIRTLLWTFIKSFQALP>Y<VALLIVMLFFIYAVIGMQVFGKIALND---	1389
CACNA1D	--MRLVKLLSRGEGIRTLLWTFIKSFQALP>Y<VALLIAMLFFIYAVIGMQMFGKVAMRD---	1399
CACNA1E	--ARLIKLLRQGYTIRILLWTFVQSFKALP>Y<VCLLIAMLFFIYAIIGMQVFGNIKLDE---	1636
CACNA1F	--MRLVKLLSKGEGIRTLLWTFIKSFQALP>Y<VALLIAMIFFIYAVIGMQMFGKVALQD---	1356
CACNA1G	RIARVLKLLKMAVGMRALLDTVMQALPQVG>N<LGLLFMLLFFIFAALGVELFGDLECDET--	1773
CACNA1H	RIARVLKLLKMATGMRALLDTVVQALPQVG>N<LGLLFMLLFFIYAALGVELFGRLECSED--	1779
CACNA1I	RIARVLKLLKMATGMRALLDTVVQALPQVG>N<LGLLFMLLFFIYAALGVELFGKLVCNDE--	1649
CACNA1S	--MRLIKLLSRAEGVRTLLWTFIKSFQALP>Y<VALLIVMLFFIYAVIGMQMFGKIALVD---	1296
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.N1659D	c.4975A>G	Putative Benign		rs201832649	SIFT: deleterious Polyphen: possibly damaging