Paralogue Annotation for SCN5A residue 1700

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1700
Reference Amino Acid: S - Serine
Protein Domain: TM Domain 4


Paralogue Variants mapped to SCN5A residue 1700

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AS1713NMyoclonic epilepsy of infancyHigh9 16122630

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.



SCN5AAYVKW-----EAG-----IDDMFNFQTFAN>S<MLCLFQITTSAGWDGLLSPILNTGPPYCDP1730
SCN1AAYVKR-----EVG-----IDDMFNFETFGN>S<MICLFQITTSAGWDGLLAPILNSKPPDCDP1743
SCN2AAYVKR-----EVG-----IDDMFNFETFGN>S<MICLFQITTSAGWDGLLAPILNSGPPDCDP1733
SCN3AAYVKK-----EAG-----IDDMFNFETFGN>S<MICLFQITTSAGWDGLLAPILNSAPPDCDP1728
SCN4AAYVKK-----ESG-----IDDMFNFETFGN>S<IICLFEITTSAGWDGLLNPILNSGPPDCDP1555
SCN7AAYVKK-----EAG-----INDVSNFETFGN>S<MLCLFQVAIFAGWDGMLDAIFNSKWSDCDP1453
SCN8AAYVKH-----EAG-----IDDMFNFETFGN>S<MICLFQITTSAGWDGLLLPILN-RPPDCSL1723
SCN9AAYVKK-----EDG-----INDMFNFETFGN>S<MICLFQITTSAGWDGLLAPILNSKPPDCDP1706
SCN10APHVRW-----EAG-----IDDMFNFQTFAN>S<MLCLFQITTSAGWDGLLSPILNTGPPYCDP1680
SCN11ASKVNP-----ESG-----IDDIFNFKTFAS>S<MLCLFQISTSAGWDSLLSPMLRSKES-CN-1568
CACNA1AGNIGIDVEDEDSDEDEFQITEHNNFRTFFQ>A<LMLLFRSATGEAWHNIMLSCLSG--KPCDK1773
CACNA1BGNIALDD---DTS-----INRHNNFRTFLQ>A<LMLLFRSATGEAWHEIMLSCLSN--QACDE1673
CACNA1CGKIALND---TTE-----INRNNNFQTFPQ>A<VLLLFRCATGEAWQDIMLACMPG--KKCAP1433
CACNA1DGKVAMRD---NNQ-----INRNNNFQTFPQ>A<VLLLFRCATGEAWQEIMLACLPG--KLCDP1443
CACNA1EGNIKLDE---ESH-----INRHNNFRSFFG>S<LMLLFRSATGEAWQEIMLSCLGE--KGCEP1680
CACNA1FGKVALQD---GTQ-----INRNNNFQTFPQ>A<VLLLFRCATGEAWQEIMLASLPG--NRCDP1400
CACNA1GGDLECDET---HP--CEGLGRHATFRNFGM>A<FLTLFRVSTGDNWNGIMKDTLRD----CDQ1817
CACNA1HGRLECSED---NP--CEGLSRHATFSNFGM>A<FLTLFRVSTGDNWNGIMKDTLRE----CSR1823
CACNA1IGKLVCNDE---NP--CEGMSRHATFENFGM>A<FLTLFQVSTGDNWNGIMKDTLRD----CTH1693
CACNA1SGKIALVD---GTQ-----INRNNNFQTFPQ>A<VLLLFRCATGEAWQEILLACSYG--KLCDP1340
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1700 for SCN5A.