Paralogue Annotation for SCN5A residue 1719

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1719
Reference Amino Acid: P - Proline
Protein Domain: TM Domain 4


Paralogue Variants mapped to SCN5A residue 1719

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AP1732LDravet syndromeHigh9 27465585

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.



SCN5ADDMFNFQTFANSMLCLFQITTSAGWDGLLS>P<ILNTGPPYCDPTLPN-S-NGSRGD---CGS1744
SCN1ADDMFNFETFGNSMICLFQITTSAGWDGLLA>P<ILNSKPPDCDPNKVN-PGSSVKGD---CGN1758
SCN2ADDMFNFETFGNSMICLFQITTSAGWDGLLA>P<ILNSGPPDCDPDKDH-PGSSVKGD---CGN1748
SCN3ADDMFNFETFGNSMICLFQITTSAGWDGLLA>P<ILNSAPPDCDPDTIH-PGSSVKGD---CGN1743
SCN4ADDMFNFETFGNSIICLFEITTSAGWDGLLN>P<ILNSGPPDCDPNLEN-PGTSVKGD---CGN1570
SCN7ANDVSNFETFGNSMLCLFQVAIFAGWDGMLD>A<IFNSKWSDCDPDKIN-PGTQVRGD---CGN1468
SCN8ADDMFNFETFGNSMICLFQITTSAGWDGLLL>P<ILN-RPPDCSLDKEH-PGSGFKGD---CGN1738
SCN9ANDMFNFETFGNSMICLFQITTSAGWDGLLA>P<ILNSKPPDCDPKKVH-PGSSVEGD---CGN1721
SCN10ADDMFNFQTFANSMLCLFQITTSAGWDGLLS>P<ILNTGPPYCDPNLPN-S-NGTRGD---CGS1694
SCN11ADDIFNFKTFASSMLCLFQISTSAGWDSLLS>P<MLRSKES-CN---------SSSEN---CHL1576
CACNA1ATEHNNFRTFFQALMLLFRSATGEAWHNIML>S<CLSG--KPCDKNSGIL-----T-R--ECGN1784
CACNA1BNRHNNFRTFLQALMLLFRSATGEAWHEIML>S<CLSN--QACDE---Q------A-NATECGS1682
CACNA1CNRNNNFQTFPQAVLLLFRCATGEAWQDIML>A<CMPG--KKCAPESEP-SNSTEGETP--CGS1449
CACNA1DNRNNNFQTFPQAVLLLFRCATGEAWQEIML>A<CLPG--KLCDPESDY--NPGE-EYT--CGS1457
CACNA1ENRHNNFRSFFGSLMLLFRSATGEAWQEIML>S<CLGE--KGCEPDTTAPSGQNEN-E--RCGT1696
CACNA1FNRNNNFQTFPQAVLLLFRCATGEAWQEIML>A<SLPG--NRCDPESDF--GPGE-EFT--CGS1414
CACNA1GGRHATFRNFGMAFLTLFRVSTGDNWNGIMK>D<TLRD----CDQEST-----C-------YNT1824
CACNA1HSRHATFSNFGMAFLTLFRVSTGDNWNGIMK>D<TLRE----CSREDKH----C---LS--YLP1833
CACNA1ISRHATFENFGMAFLTLFQVSTGDNWNGIMK>D<TLRD----CTHDERS----C---LS--SLQ1703
CACNA1SNRNNNFQTFPQAVLLLFRCATGEAWQEILL>A<CSYG--KLCDPESDY--APGE-EYT--CGT1354
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1719 for SCN5A.