Paralogue Annotation for SCN5A residue 1749

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1749
Reference Amino Acid: I - Isoleucine
Protein Domain: TM Domain 4


Paralogue Variants mapped to SCN5A residue 1749

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AI1763FDravet syndrome C ?High9 21248271
SCN1AI1763NDravet syndrome C ?High9 21248271

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.



SCN5AGPPYCDPTLPN-S-NGSRGD---CGSPAVG>I<LFFTTYIIISFLIVVNMYIAIILENFSVAT1779
SCN1AKPPDCDPNKVN-PGSSVKGD---CGNPSVG>I<FFFVSYIIISFLVVVNMYIAVILENFSVAT1793
SCN2AGPPDCDPDKDH-PGSSVKGD---CGNPSVG>I<FFFVSYIIISFLVVVNMYIAVILENFSVAT1783
SCN3AAPPDCDPDTIH-PGSSVKGD---CGNPSVG>I<FFFVSYIIISFLVVVNMYIAVILENFSVAT1778
SCN4AGPPDCDPNLEN-PGTSVKGD---CGNPSIG>I<CFFCSYIIISFLIVVNMYIAIILENFNVAT1605
SCN7AKWSDCDPDKIN-PGTQVRGD---CGNPSVG>I<FYFVSYILISWLIIVNMYIVVVMEFLNIAS1503
SCN8ARPPDCSLDKEH-PGSGFKGD---CGNPSVG>I<FFFVSYIIISFLIVVNMYIAIILENFSVAT1773
SCN9AKPPDCDPKKVH-PGSSVEGD---CGNPSVG>I<FYFVSYIIISFLVVVNMYIAVILENFSVAT1756
SCN10AGPPYCDPNLPN-S-NGTRGD---CGSPAVG>I<IFFTTYIIISFLIMVNMYIAVILENFNVAT1729
SCN11AKES-CN---------SSSEN---CHLPGIA>T<SYFVSYIIISFLIVVNMYIAVILENFNTAT1611
CACNA1A--KPCDKNSGIL-----T-R--ECGN-EFA>Y<FYFVSFIFLCSFLMLNLFVAVIMDNFEYLT1818
CACNA1B--QACDE---Q------A-NATECGS-DFA>Y<FYFVSFIFLCSFLMLNLFVAVIMDNFEYLT1716
CACNA1C--KKCAPESEP-SNSTEGETP--CGS-SFA>V<FYFISFYMLCAFLIINLFVAVIMDNFDYLT1483
CACNA1D--KLCDPESDY--NPGE-EYT--CGS-NFA>I<VYFISFYMLCAFLIINLFVAVIMDNFDYLT1491
CACNA1E--KGCEPDTTAPSGQNEN-E--RCGT-DLA>Y<VYFVSFIFFCSFLMLNLFVAVIMDNFEYLT1730
CACNA1F--NRCDPESDF--GPGE-EFT--CGS-NFA>I<AYFISFFMLCAFLIINLFVAVIMDNFDYLT1448
CACNA1G----CDQEST-----C-------YNT-VIS>P<IYFVSFVLTAQFVLVNVVIAVLMKHLEESN1858
CACNA1H----CSREDKH----C---LS--YLP-ALS>P<VYFVTFVLVAQFVLVNVVVAVLMKHLEESN1867
CACNA1I----CTHDERS----C---LS--SLQ-FVS>P<LYFVSFVLTAQFVLINVVVAVLMKHLDDSN1737
CACNA1S--KLCDPESDY--APGE-EYT--CGT-NFA>Y<YYFISFYMLCAFLVINLFVAVIMDNFDYLT1388
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1749 for SCN5A.