Paralogue Annotation for SCN5A residue 1689

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1689
Reference Amino Acid: D - Aspartate
Protein Domain: TM Domain 4

Paralogue Variants mapped to SCN5A residue 1689

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	D1702E	Dravet syndrome	High	9	24168886
SCN10A	D1639N	Painful small fibre neuropathy with gastroparesis	High	9	26711856

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	FIYSIFGMANFAYVKW-----EAG-----I>D<DMFNFQTFANSMLCLFQITTSAGWDGLLSP	1719
SCN1A	FIYAIFGMSNFAYVKR-----EVG-----I>D<DMFNFETFGNSMICLFQITTSAGWDGLLAP	1732
SCN2A	FIYAIFGMSNFAYVKR-----EVG-----I>D<DMFNFETFGNSMICLFQITTSAGWDGLLAP	1722
SCN3A	FIYAIFGMSNFAYVKK-----EAG-----I>D<DMFNFETFGNSMICLFQITTSAGWDGLLAP	1717
SCN4A	FIYSIFGMSNFAYVKK-----ESG-----I>D<DMFNFETFGNSIICLFEITTSAGWDGLLNP	1544
SCN7A	FIYAVFGMYNFAYVKK-----EAG-----I>N<DVSNFETFGNSMLCLFQVAIFAGWDGMLDA	1442
SCN8A	FIFSIFGMSNFAYVKH-----EAG-----I>D<DMFNFETFGNSMICLFQITTSAGWDGLLLP	1713
SCN9A	FIYAIFGMSNFAYVKK-----EDG-----I>N<DMFNFETFGNSMICLFQITTSAGWDGLLAP	1695
SCN10A	FIYSIFGMSSFPHVRW-----EAG-----I>D<DMFNFQTFANSMLCLFQITTSAGWDGLLSP	1669
SCN11A	FIYAILGMNWFSKVNP-----ESG-----I>D<DIFNFKTFASSMLCLFQISTSAGWDSLLSP	1559
CACNA1A	FIYAIIGMQVFGNIGIDVEDEDSDEDEFQI>T<EHNNFRTFFQALMLLFRSATGEAWHNIMLS	1764
CACNA1B	FIYAIIGMQVFGNIALDD---DTS-----I>N<RHNNFRTFLQALMLLFRSATGEAWHEIMLS	1664
CACNA1C	FIYAVIGMQVFGKIALND---TTE-----I>N<RNNNFQTFPQAVLLLFRCATGEAWQDIMLA	1424
CACNA1D	FIYAVIGMQMFGKVAMRD---NNQ-----I>N<RNNNFQTFPQAVLLLFRCATGEAWQEIMLA	1434
CACNA1E	FIYAIIGMQVFGNIKLDE---ESH-----I>N<RHNNFRSFFGSLMLLFRSATGEAWQEIMLS	1671
CACNA1F	FIYAVIGMQMFGKVALQD---GTQ-----I>N<RNNNFQTFPQAVLLLFRCATGEAWQEIMLA	1391
CACNA1G	FIFAALGVELFGDLECDET---HP--CEGL>G<RHATFRNFGMAFLTLFRVSTGDNWNGIMKD	1810
CACNA1H	FIYAALGVELFGRLECSED---NP--CEGL>S<RHATFSNFGMAFLTLFRVSTGDNWNGIMKD	1816
CACNA1I	FIYAALGVELFGKLVCNDE---NP--CEGM>S<RHATFENFGMAFLTLFQVSTGDNWNGIMKD	1686
CACNA1S	FIYAVIGMQMFGKIALVD---GTQ-----I>N<RNNNFQTFPQAVLLLFRCATGEAWQEILLA	1331
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D1689N	c.5065G>A	Putative Benign			SIFT: Polyphen: