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

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AD1703VDravet syndromeHigh9 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.



SCN5AIYSIFGMANFAYVKW-----EAG-----ID>D<MFNFQTFANSMLCLFQITTSAGWDGLLSPI1720
SCN1AIYAIFGMSNFAYVKR-----EVG-----ID>D<MFNFETFGNSMICLFQITTSAGWDGLLAPI1733
SCN2AIYAIFGMSNFAYVKR-----EVG-----ID>D<MFNFETFGNSMICLFQITTSAGWDGLLAPI1723
SCN3AIYAIFGMSNFAYVKK-----EAG-----ID>D<MFNFETFGNSMICLFQITTSAGWDGLLAPI1718
SCN4AIYSIFGMSNFAYVKK-----ESG-----ID>D<MFNFETFGNSIICLFEITTSAGWDGLLNPI1545
SCN7AIYAVFGMYNFAYVKK-----EAG-----IN>D<VSNFETFGNSMLCLFQVAIFAGWDGMLDAI1443
SCN8AIFSIFGMSNFAYVKH-----EAG-----ID>D<MFNFETFGNSMICLFQITTSAGWDGLLLPI1714
SCN9AIYAIFGMSNFAYVKK-----EDG-----IN>D<MFNFETFGNSMICLFQITTSAGWDGLLAPI1696
SCN10AIYSIFGMSSFPHVRW-----EAG-----ID>D<MFNFQTFANSMLCLFQITTSAGWDGLLSPI1670
SCN11AIYAILGMNWFSKVNP-----ESG-----ID>D<IFNFKTFASSMLCLFQISTSAGWDSLLSPM1560
CACNA1AIYAIIGMQVFGNIGIDVEDEDSDEDEFQIT>E<HNNFRTFFQALMLLFRSATGEAWHNIMLSC1765
CACNA1BIYAIIGMQVFGNIALDD---DTS-----IN>R<HNNFRTFLQALMLLFRSATGEAWHEIMLSC1665
CACNA1CIYAVIGMQVFGKIALND---TTE-----IN>R<NNNFQTFPQAVLLLFRCATGEAWQDIMLAC1425
CACNA1DIYAVIGMQMFGKVAMRD---NNQ-----IN>R<NNNFQTFPQAVLLLFRCATGEAWQEIMLAC1435
CACNA1EIYAIIGMQVFGNIKLDE---ESH-----IN>R<HNNFRSFFGSLMLLFRSATGEAWQEIMLSC1672
CACNA1FIYAVIGMQMFGKVALQD---GTQ-----IN>R<NNNFQTFPQAVLLLFRCATGEAWQEIMLAS1392
CACNA1GIFAALGVELFGDLECDET---HP--CEGLG>R<HATFRNFGMAFLTLFRVSTGDNWNGIMKDT1811
CACNA1HIYAALGVELFGRLECSED---NP--CEGLS>R<HATFSNFGMAFLTLFRVSTGDNWNGIMKDT1817
CACNA1IIYAALGVELFGKLVCNDE---NP--CEGMS>R<HATFENFGMAFLTLFQVSTGDNWNGIMKDT1687
CACNA1SIYAVIGMQMFGKIALVD---GTQ-----IN>R<NNNFQTFPQAVLLLFRCATGEAWQEILLAC1332
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.D1690Nc.5068G>A Inherited ArrhythmiaBrSSIFT:
Polyphen:
ReportsInherited ArrhythmiaBrS 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
Inherited ArrhythmiaBrS 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