Paralogue Annotation for SCN5A residue 1755

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1755
Reference Amino Acid: Y - Tyrosine
Protein Domain: TM Domain 4


Paralogue Variants mapped to SCN5A residue 1755

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AY1769HGeneralized epilepsy with febrile seizures plusHigh9 18076640

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.



SCN5APTLPN-S-NGSRGD---CGSPAVGILFFTT>Y<IIISFLIVVNMYIAIILENFSVATEESTEP1785
SCN1APNKVN-PGSSVKGD---CGNPSVGIFFFVS>Y<IIISFLVVVNMYIAVILENFSVATEESAEP1799
SCN2APDKDH-PGSSVKGD---CGNPSVGIFFFVS>Y<IIISFLVVVNMYIAVILENFSVATEESAEP1789
SCN3APDTIH-PGSSVKGD---CGNPSVGIFFFVS>Y<IIISFLVVVNMYIAVILENFSVATEESAEP1784
SCN4APNLEN-PGTSVKGD---CGNPSIGICFFCS>Y<IIISFLIVVNMYIAIILENFNVATEESSEP1611
SCN7APDKIN-PGTQVRGD---CGNPSVGIFYFVS>Y<ILISWLIIVNMYIVVVMEFLNIASKKKNKT1509
SCN8ALDKEH-PGSGFKGD---CGNPSVGIFFFVS>Y<IIISFLIVVNMYIAIILENFSVATEESADP1779
SCN9APKKVH-PGSSVEGD---CGNPSVGIFYFVS>Y<IIISFLVVVNMYIAVILENFSVATEESTEP1762
SCN10APNLPN-S-NGTRGD---CGSPAVGIIFFTT>Y<IIISFLIMVNMYIAVILENFNVATEESTEP1735
SCN11A---------SSSEN---CHLPGIATSYFVS>Y<IIISFLIVVNMYIAVILENFNTATEESEDP1617
CACNA1AKNSGIL-----T-R--ECGN-EFAYFYFVS>F<IFLCSFLMLNLFVAVIMDNFEYLTRDSSI-1823
CACNA1BE---Q------A-NATECGS-DFAYFYFVS>F<IFLCSFLMLNLFVAVIMDNFEYLTRDSSI-1721
CACNA1CPESEP-SNSTEGETP--CGS-SFAVFYFIS>F<YMLCAFLIINLFVAVIMDNFDYLTRDWSI-1488
CACNA1DPESDY--NPGE-EYT--CGS-NFAIVYFIS>F<YMLCAFLIINLFVAVIMDNFDYLTRDWSI-1496
CACNA1EPDTTAPSGQNEN-E--RCGT-DLAYVYFVS>F<IFFCSFLMLNLFVAVIMDNFEYLTRDSSI-1735
CACNA1FPESDF--GPGE-EFT--CGS-NFAIAYFIS>F<FMLCAFLIINLFVAVIMDNFDYLTRDWSI-1453
CACNA1GQEST-----C-------YNT-VISPIYFVS>F<VLTAQFVLVNVVIAVLMKHLEESNKEAKE-1863
CACNA1HREDKH----C---LS--YLP-ALSPVYFVT>F<VLVAQFVLVNVVVAVLMKHLEESNKEARE-1872
CACNA1IHDERS----C---LS--SLQ-FVSPLYFVS>F<VLTAQFVLINVVVAVLMKHLDDSNKEAQE-1742
CACNA1SPESDY--APGE-EYT--CGT-NFAYYYFIS>F<YMLCAFLVINLFVAVIMDNFDYLTRDWSI-1393
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1755 for SCN5A.