Paralogue Annotation for SCN5A residue 1756

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1756
Reference Amino Acid: I - Isoleucine
Protein Domain: TM Domain 4


Paralogue Variants mapped to SCN5A residue 1756

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AI1770NEpilepsy ?High9 21426328
SCN1AI1770TDravet syndrome B ?High9 21248271
SCN10AI1706VSmall fibre neuropathyHigh9 23986244

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.



SCN5ATLPN-S-NGSRGD---CGSPAVGILFFTTY>I<IISFLIVVNMYIAIILENFSVATEESTEPL1786
SCN1ANKVN-PGSSVKGD---CGNPSVGIFFFVSY>I<IISFLVVVNMYIAVILENFSVATEESAEPL1800
SCN2ADKDH-PGSSVKGD---CGNPSVGIFFFVSY>I<IISFLVVVNMYIAVILENFSVATEESAEPL1790
SCN3ADTIH-PGSSVKGD---CGNPSVGIFFFVSY>I<IISFLVVVNMYIAVILENFSVATEESAEPL1785
SCN4ANLEN-PGTSVKGD---CGNPSIGICFFCSY>I<IISFLIVVNMYIAIILENFNVATEESSEPL1612
SCN7ADKIN-PGTQVRGD---CGNPSVGIFYFVSY>I<LISWLIIVNMYIVVVMEFLNIASKKKNKTL1510
SCN8ADKEH-PGSGFKGD---CGNPSVGIFFFVSY>I<IISFLIVVNMYIAIILENFSVATEESADPL1780
SCN9AKKVH-PGSSVEGD---CGNPSVGIFYFVSY>I<IISFLVVVNMYIAVILENFSVATEESTEPL1763
SCN10ANLPN-S-NGTRGD---CGSPAVGIIFFTTY>I<IISFLIMVNMYIAVILENFNVATEESTEPL1736
SCN11A--------SSSEN---CHLPGIATSYFVSY>I<IISFLIVVNMYIAVILENFNTATEESEDPL1618
CACNA1ANSGIL-----T-R--ECGN-EFAYFYFVSF>I<FLCSFLMLNLFVAVIMDNFEYLTRDSSI-L1824
CACNA1B---Q------A-NATECGS-DFAYFYFVSF>I<FLCSFLMLNLFVAVIMDNFEYLTRDSSI-L1722
CACNA1CESEP-SNSTEGETP--CGS-SFAVFYFISF>Y<MLCAFLIINLFVAVIMDNFDYLTRDWSI-L1489
CACNA1DESDY--NPGE-EYT--CGS-NFAIVYFISF>Y<MLCAFLIINLFVAVIMDNFDYLTRDWSI-L1497
CACNA1EDTTAPSGQNEN-E--RCGT-DLAYVYFVSF>I<FFCSFLMLNLFVAVIMDNFEYLTRDSSI-L1736
CACNA1FESDF--GPGE-EFT--CGS-NFAIAYFISF>F<MLCAFLIINLFVAVIMDNFDYLTRDWSI-L1454
CACNA1GEST-----C-------YNT-VISPIYFVSF>V<LTAQFVLVNVVIAVLMKHLEESNKEAKE--1863
CACNA1HEDKH----C---LS--YLP-ALSPVYFVTF>V<LVAQFVLVNVVVAVLMKHLEESNKEARE--1872
CACNA1IDERS----C---LS--SLQ-FVSPLYFVSF>V<LTAQFVLINVVVAVLMKHLDDSNKEAQE--1742
CACNA1SESDY--APGE-EYT--CGT-NFAYYYFISF>Y<MLCAFLVINLFVAVIMDNFDYLTRDWSI-L1394
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1756 for SCN5A.