Paralogue Annotation for SCN5A residue 1291

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1291
Reference Amino Acid: L - Leucine
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1291

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN9AL1267VDravet syndrome ?High7 19763161, 23895530

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.



SCN5AYFTNAWCWLDFLIVDVSLVSLVAN-T---->L<GFAEMGPIKSLRTLRALRPLRALSRFEGMR1321
SCN1AYFTNAWCWLDFLIVDVSLVSLTAN-A---->L<GYSELGAIKSLRTLRALRPLRALSRFEGMR1334
SCN2AYFTNAWCWLDFLIVDVSLVSLTAN-A---->L<GYSELGAIKSLRTLRALRPLRALSRFEGMR1324
SCN3AYFTNAWCWLDFLIVDVSLVSLVAN-A---->L<GYSELGAIKSLRTLRALRPLRALSRFEGMR1322
SCN4AYFTNAWCWLDFLIVDVSIISLVAN-W---->L<GYSELGPIKSLRTLRALRPLRALSRFEGMR1147
SCN7AYFSNGWYRLDFVVVIVFCLSLIGK-T---->R<E--E---LKPLISMKFLRPLRVLSQFERMK1045
SCN8AFFTNAWCWLDFLIVAVSLVSLIAN-A---->L<GYSELGAIKSLRTLRALRPLRALSRFEGMR1314
SCN9AYFTNAWCWLDFLIVDVSLVTLVAN-T---->L<GYSDLGPIKSLRTLRALRPLRALSRFEGMR1297
SCN10AYFTNAWCWLDFLIVNISLISLTAK-I---->L<EYSEVAPIKALRTLRALRPLRALSRFEGMR1268
SCN11AYFTSAWCCLDFIIVIVSVTTLI-------->-<N---LMELKSFRTLRALRPLRALSQFEGMK1165
CACNA1AYFRDLWNILDFIVVSGALVAFAFTGN---->S<KGKDINTIKSLRVLRVLRPLKTIKRLPKLK1364
CACNA1BYFRDLWNILDFIVVSGALVAFAFS-G---->S<KGKDINTIKSLRVLRVLRPLKTIKRLPKLK1270
CACNA1CFCRNYFNILDLLVVSVSLISF----G---->I<QSSAINVVKILRVLRVLRPLRAINRAKGLK1016
CACNA1DFCRNYFNLLDMLVVGVSLVSF----G---->I<QSSAISVVKILRVLRVLRPLRAINRAKGLK1022
CACNA1EYFRDLWNILDFVVVVGALVAFALANA-LGT>N<KGRDIKTIKSLRVLRVLRPLKTIKRLPKLK1276
CACNA1FFCRSWFNMLDLLVVSVSLISF----G---->I<HSSAISVVKILRVLRVLRPLRAINRAKGLK987
CACNA1GYLRSSWNVLDGLLVLISVIDILVS-MVSD->S<GTKILGMLRVLRLLRTLRPLRVISRAQGLK1399
CACNA1HYLQSSWNLLDGLLVLVSLVDIVVA-MASA->G<GAKILGVLRVLRLLRTLRPLRVISRAPGLK1417
CACNA1IYLRSSWNVLDGFLVFVSIIDIVVS-LASA->G<GAKILGVLRVLRLLRTLRPLRVISRAPGLK1293
CACNA1SFCRNYFNMLDLLVVAVSLISM----G---->L<ESSAISVVKILRVLRVLRPLRAINRAKGLK915
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1291 for SCN5A.