Paralogue Annotation for SCN5A residue 1696

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1696
Reference Amino Acid: T - Threonine
Protein Domain: TM Domain 4


Paralogue Variants mapped to SCN5A residue 1696

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AT1709IMyoclonic epilepsy of infancyHigh9 12566275, 16210358

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.



SCN5AMANFAYVKW-----EAG-----IDDMFNFQ>T<FANSMLCLFQITTSAGWDGLLSPILNTGPP1726
SCN1AMSNFAYVKR-----EVG-----IDDMFNFE>T<FGNSMICLFQITTSAGWDGLLAPILNSKPP1739
SCN2AMSNFAYVKR-----EVG-----IDDMFNFE>T<FGNSMICLFQITTSAGWDGLLAPILNSGPP1729
SCN3AMSNFAYVKK-----EAG-----IDDMFNFE>T<FGNSMICLFQITTSAGWDGLLAPILNSAPP1724
SCN4AMSNFAYVKK-----ESG-----IDDMFNFE>T<FGNSIICLFEITTSAGWDGLLNPILNSGPP1551
SCN7AMYNFAYVKK-----EAG-----INDVSNFE>T<FGNSMLCLFQVAIFAGWDGMLDAIFNSKWS1449
SCN8AMSNFAYVKH-----EAG-----IDDMFNFE>T<FGNSMICLFQITTSAGWDGLLLPILN-RPP1719
SCN9AMSNFAYVKK-----EDG-----INDMFNFE>T<FGNSMICLFQITTSAGWDGLLAPILNSKPP1702
SCN10AMSSFPHVRW-----EAG-----IDDMFNFQ>T<FANSMLCLFQITTSAGWDGLLSPILNTGPP1676
SCN11AMNWFSKVNP-----ESG-----IDDIFNFK>T<FASSMLCLFQISTSAGWDSLLSPMLRSKES1566
CACNA1AMQVFGNIGIDVEDEDSDEDEFQITEHNNFR>T<FFQALMLLFRSATGEAWHNIMLSCLSG--K1769
CACNA1BMQVFGNIALDD---DTS-----INRHNNFR>T<FLQALMLLFRSATGEAWHEIMLSCLSN--Q1669
CACNA1CMQVFGKIALND---TTE-----INRNNNFQ>T<FPQAVLLLFRCATGEAWQDIMLACMPG--K1429
CACNA1DMQMFGKVAMRD---NNQ-----INRNNNFQ>T<FPQAVLLLFRCATGEAWQEIMLACLPG--K1439
CACNA1EMQVFGNIKLDE---ESH-----INRHNNFR>S<FFGSLMLLFRSATGEAWQEIMLSCLGE--K1676
CACNA1FMQMFGKVALQD---GTQ-----INRNNNFQ>T<FPQAVLLLFRCATGEAWQEIMLASLPG--N1396
CACNA1GVELFGDLECDET---HP--CEGLGRHATFR>N<FGMAFLTLFRVSTGDNWNGIMKDTLRD---1814
CACNA1HVELFGRLECSED---NP--CEGLSRHATFS>N<FGMAFLTLFRVSTGDNWNGIMKDTLRE---1820
CACNA1IVELFGKLVCNDE---NP--CEGMSRHATFE>N<FGMAFLTLFQVSTGDNWNGIMKDTLRD---1690
CACNA1SMQMFGKIALVD---GTQ-----INRNNNFQ>T<FPQAVLLLFRCATGEAWQEILLACSYG--K1336
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1696 for SCN5A.