Paralogue Annotation for SCN5A residue 1694

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1694
Reference Amino Acid: F - Phenylalanine
Protein Domain: TM Domain 4


Paralogue Variants mapped to SCN5A residue 1694

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AF1707VMyoclonic epilepsy of infancyHigh9 17347258, 22409937

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.



SCN5AFGMANFAYVKW-----EAG-----IDDMFN>F<QTFANSMLCLFQITTSAGWDGLLSPILNTG1724
SCN1AFGMSNFAYVKR-----EVG-----IDDMFN>F<ETFGNSMICLFQITTSAGWDGLLAPILNSK1737
SCN2AFGMSNFAYVKR-----EVG-----IDDMFN>F<ETFGNSMICLFQITTSAGWDGLLAPILNSG1727
SCN3AFGMSNFAYVKK-----EAG-----IDDMFN>F<ETFGNSMICLFQITTSAGWDGLLAPILNSA1722
SCN4AFGMSNFAYVKK-----ESG-----IDDMFN>F<ETFGNSIICLFEITTSAGWDGLLNPILNSG1549
SCN7AFGMYNFAYVKK-----EAG-----INDVSN>F<ETFGNSMLCLFQVAIFAGWDGMLDAIFNSK1447
SCN8AFGMSNFAYVKH-----EAG-----IDDMFN>F<ETFGNSMICLFQITTSAGWDGLLLPILN-R1717
SCN9AFGMSNFAYVKK-----EDG-----INDMFN>F<ETFGNSMICLFQITTSAGWDGLLAPILNSK1700
SCN10AFGMSSFPHVRW-----EAG-----IDDMFN>F<QTFANSMLCLFQITTSAGWDGLLSPILNTG1674
SCN11ALGMNWFSKVNP-----ESG-----IDDIFN>F<KTFASSMLCLFQISTSAGWDSLLSPMLRSK1564
CACNA1AIGMQVFGNIGIDVEDEDSDEDEFQITEHNN>F<RTFFQALMLLFRSATGEAWHNIMLSCLSG-1768
CACNA1BIGMQVFGNIALDD---DTS-----INRHNN>F<RTFLQALMLLFRSATGEAWHEIMLSCLSN-1668
CACNA1CIGMQVFGKIALND---TTE-----INRNNN>F<QTFPQAVLLLFRCATGEAWQDIMLACMPG-1428
CACNA1DIGMQMFGKVAMRD---NNQ-----INRNNN>F<QTFPQAVLLLFRCATGEAWQEIMLACLPG-1438
CACNA1EIGMQVFGNIKLDE---ESH-----INRHNN>F<RSFFGSLMLLFRSATGEAWQEIMLSCLGE-1675
CACNA1FIGMQMFGKVALQD---GTQ-----INRNNN>F<QTFPQAVLLLFRCATGEAWQEIMLASLPG-1395
CACNA1GLGVELFGDLECDET---HP--CEGLGRHAT>F<RNFGMAFLTLFRVSTGDNWNGIMKDTLRD-1814
CACNA1HLGVELFGRLECSED---NP--CEGLSRHAT>F<SNFGMAFLTLFRVSTGDNWNGIMKDTLRE-1820
CACNA1ILGVELFGKLVCNDE---NP--CEGMSRHAT>F<ENFGMAFLTLFQVSTGDNWNGIMKDTLRD-1690
CACNA1SIGMQMFGKIALVD---GTQ-----INRNNN>F<QTFPQAVLLLFRCATGEAWQEILLACSYG-1335
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1694 for SCN5A.