Paralogue Annotation for SCN5A residue 1349

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1349
Reference Amino Acid: S - Serine
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1349

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AS1362RDravet syndromeHigh9 24168886
CACNA1FA1015TCone-rod dystrophyMedium9 26992781

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.



SCN5AGMRVVVNALVGAIPSIMNVLLVCLIFWLIF>S<IMGVNLFAGKFGRCINQTEGDL-P-LNYTI1377
SCN1AGMRVVVNALLGAIPSIMNVLLVCLIFWLIF>S<IMGVNLFAGKFYHCINTTTGDR---FDIED1389
SCN2AGMRVVVNALLGAIPSIMNVLLVCLIFWLIF>S<IMGVNLFAGKFYHCINYTTGEM---FDVSV1379
SCN3AGMRVVVNALVGAIPSIMNVLLVCLIFWLIF>S<IMGVNLFAGKFYHCVNMTTGNM---FDISD1377
SCN4AGMRVVVNALLGAIPSIMNVLLVCLIFWLIF>S<IMGVNLFAGKFYYCINTTTSER---FDISE1202
SCN7ARMKVVVRALIKTTLPTLNVFLVCLMIWLIF>S<IMGVDLFAGRFYECIDPTSGER---FPSSE1100
SCN8AGMRVVVNALVGAIPSIMNVLLVCLIFWLIF>S<IMGVNLFAGKYHYCFNETSEIR---FEIED1369
SCN9AGMRVVVNALIGAIPSIMNVLLVCLIFWLIF>S<IMGVNLFAGKFYECINTTDGSR---FPASQ1352
SCN10AGMRVVVDALVGAIPSIMNVLLVCLIFWLIF>S<IMGVNLFAGKFWRCINYTDGEF-SLVPLSI1325
SCN11AGMKVVVNALIGAIPAILNVLLVCLIFWLVF>C<ILGVYFFSGKFGKCINGTDSVI----NYTI1219
CACNA1AKLKAVFDCVVNSLKNVFNILIVYMLFMFIF>A<VVAVQLFKGKFFHCTDESKEFEKDCRGKYL1422
CACNA1BKLKAVFDCVVNSLKNVLNILIVYMLFMFIF>A<VIAVQLFKGKFFYCTDESKELERDCRGQYL1328
CACNA1CGLKHVVQCVFVAIRTIGNIVIVTTLLQFMF>A<CIGVQLFKGKLYTCSDSSKQTEAECKGNYI1074
CACNA1DGLKHVVQCVFVAIRTIGNIMIVTTLLQFMF>A<CIGVQLFKGKFYRCTDEAKSNPEECRGLFI1080
CACNA1EKLKAVFDCVVTSLKNVFNILIVYKLFMFIF>A<VIAVQLFKGKFFYCTDSSKDTEKECIGNYV1334
CACNA1FGLKHVVQCVFVAIRTIGNIMIVTTLLQFMF>A<CIGVQLFKGKFYTCTDEAKHTPQECKGSFL1045
CACNA1GGLKLVVETLMSSLKPIGNIVVICCAFFIIF>G<ILGVQLFKGKFFVCQGED---------TRN1448
CACNA1HGLKLVVETLISSLRPIGNIVLICCAFFIIF>G<ILGVQLFKGKFYYCEGPD---------TRN1466
CACNA1IGLKLVVETLISSLKPIGNIVLICCAFFIIF>G<ILGVQLFKGKFYHCLGVD---------TRN1342
CACNA1SGLKHVVQCMFVAISTIGNIVLVTTLLQFMF>A<CIGVQLFKGKFFRCTDLSKMTEEECRGYYY973
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1349 for SCN5A.