Paralogue Annotation for SCN5A residue 1690

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1690
Reference Amino Acid: D - Aspartate
Protein Domain: TM Domain 4

Paralogue Variants mapped to SCN5A residue 1690

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	D1703V	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	IYSIFGMANFAYVKW-----EAG-----ID>D<MFNFQTFANSMLCLFQITTSAGWDGLLSPI	1720
SCN1A	IYAIFGMSNFAYVKR-----EVG-----ID>D<MFNFETFGNSMICLFQITTSAGWDGLLAPI	1733
SCN2A	IYAIFGMSNFAYVKR-----EVG-----ID>D<MFNFETFGNSMICLFQITTSAGWDGLLAPI	1723
SCN3A	IYAIFGMSNFAYVKK-----EAG-----ID>D<MFNFETFGNSMICLFQITTSAGWDGLLAPI	1718
SCN4A	IYSIFGMSNFAYVKK-----ESG-----ID>D<MFNFETFGNSIICLFEITTSAGWDGLLNPI	1545
SCN7A	IYAVFGMYNFAYVKK-----EAG-----IN>D<VSNFETFGNSMLCLFQVAIFAGWDGMLDAI	1443
SCN8A	IFSIFGMSNFAYVKH-----EAG-----ID>D<MFNFETFGNSMICLFQITTSAGWDGLLLPI	1714
SCN9A	IYAIFGMSNFAYVKK-----EDG-----IN>D<MFNFETFGNSMICLFQITTSAGWDGLLAPI	1696
SCN10A	IYSIFGMSSFPHVRW-----EAG-----ID>D<MFNFQTFANSMLCLFQITTSAGWDGLLSPI	1670
SCN11A	IYAILGMNWFSKVNP-----ESG-----ID>D<IFNFKTFASSMLCLFQISTSAGWDSLLSPM	1560
CACNA1A	IYAIIGMQVFGNIGIDVEDEDSDEDEFQIT>E<HNNFRTFFQALMLLFRSATGEAWHNIMLSC	1765
CACNA1B	IYAIIGMQVFGNIALDD---DTS-----IN>R<HNNFRTFLQALMLLFRSATGEAWHEIMLSC	1665
CACNA1C	IYAVIGMQVFGKIALND---TTE-----IN>R<NNNFQTFPQAVLLLFRCATGEAWQDIMLAC	1425
CACNA1D	IYAVIGMQMFGKVAMRD---NNQ-----IN>R<NNNFQTFPQAVLLLFRCATGEAWQEIMLAC	1435
CACNA1E	IYAIIGMQVFGNIKLDE---ESH-----IN>R<HNNFRSFFGSLMLLFRSATGEAWQEIMLSC	1672
CACNA1F	IYAVIGMQMFGKVALQD---GTQ-----IN>R<NNNFQTFPQAVLLLFRCATGEAWQEIMLAS	1392
CACNA1G	IFAALGVELFGDLECDET---HP--CEGLG>R<HATFRNFGMAFLTLFRVSTGDNWNGIMKDT	1811
CACNA1H	IYAALGVELFGRLECSED---NP--CEGLS>R<HATFSNFGMAFLTLFRVSTGDNWNGIMKDT	1817
CACNA1I	IYAALGVELFGKLVCNDE---NP--CEGMS>R<HATFENFGMAFLTLFQVSTGDNWNGIMKDT	1687
CACNA1S	IYAVIGMQMFGKIALVD---GTQ-----IN>R<NNNFQTFPQAVLLLFRCATGEAWQEILLAC	1332
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D1690N	c.5068G>A	Inherited Arrhythmia	BrS		SIFT: Polyphen:
Reports		Inherited Arrhythmia	BrS	p.D1690N Nav1.5 rescues p.G1748D mutation gating defects in a compound heterozygous Brugada syndrome patient. Heart Rhythm. 2013 10(2):264-72. doi: 10.1016/j.hrthm.2012.10.025. 23085483
Reports		Inherited Arrhythmia	BrS	p.D1690N sodium voltage-gated channel α subunit 5 mutation reduced sodium current density and is associated with Brugada syndrome. Mol Med Rep. 2016 13(6):5216-22. doi: 10.3892/mmr.2016.5162. 27108952