Paralogue Annotation for SCN5A residue 1321

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1321
Reference Amino Acid: R - Arginine
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1321

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN10AR1268QBrugada syndromeHigh9 24998131, 24998131, 25691538, 25691686

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.



SCN5ALGFAEMGPIKSLRTLRALRPLRALSRFEGM>R<VVVNALVGAIPSIMNVLLVCLIFWLIFSIM1351
SCN1ALGYSELGAIKSLRTLRALRPLRALSRFEGM>R<VVVNALLGAIPSIMNVLLVCLIFWLIFSIM1364
SCN2ALGYSELGAIKSLRTLRALRPLRALSRFEGM>R<VVVNALLGAIPSIMNVLLVCLIFWLIFSIM1354
SCN3ALGYSELGAIKSLRTLRALRPLRALSRFEGM>R<VVVNALVGAIPSIMNVLLVCLIFWLIFSIM1352
SCN4ALGYSELGPIKSLRTLRALRPLRALSRFEGM>R<VVVNALLGAIPSIMNVLLVCLIFWLIFSIM1177
SCN7ARE--E---LKPLISMKFLRPLRVLSQFERM>K<VVVRALIKTTLPTLNVFLVCLMIWLIFSIM1075
SCN8ALGYSELGAIKSLRTLRALRPLRALSRFEGM>R<VVVNALVGAIPSIMNVLLVCLIFWLIFSIM1344
SCN9ALGYSDLGPIKSLRTLRALRPLRALSRFEGM>R<VVVNALIGAIPSIMNVLLVCLIFWLIFSIM1327
SCN10ALEYSEVAPIKALRTLRALRPLRALSRFEGM>R<VVVDALVGAIPSIMNVLLVCLIFWLIFSIM1298
SCN11A-N---LMELKSFRTLRALRPLRALSQFEGM>K<VVVNALIGAIPAILNVLLVCLIFWLVFCIL1195
CACNA1ASKGKDINTIKSLRVLRVLRPLKTIKRLPKL>K<AVFDCVVNSLKNVFNILIVYMLFMFIFAVV1394
CACNA1BSKGKDINTIKSLRVLRVLRPLKTIKRLPKL>K<AVFDCVVNSLKNVLNILIVYMLFMFIFAVI1300
CACNA1CIQSSAINVVKILRVLRVLRPLRAINRAKGL>K<HVVQCVFVAIRTIGNIVIVTTLLQFMFACI1046
CACNA1DIQSSAISVVKILRVLRVLRPLRAINRAKGL>K<HVVQCVFVAIRTIGNIMIVTTLLQFMFACI1052
CACNA1ENKGRDIKTIKSLRVLRVLRPLKTIKRLPKL>K<AVFDCVVTSLKNVFNILIVYKLFMFIFAVI1306
CACNA1FIHSSAISVVKILRVLRVLRPLRAINRAKGL>K<HVVQCVFVAIRTIGNIMIVTTLLQFMFACI1017
CACNA1GSGTKILGMLRVLRLLRTLRPLRVISRAQGL>K<LVVETLMSSLKPIGNIVVICCAFFIIFGIL1429
CACNA1HGGAKILGVLRVLRLLRTLRPLRVISRAPGL>K<LVVETLISSLRPIGNIVLICCAFFIIFGIL1447
CACNA1IGGAKILGVLRVLRLLRTLRPLRVISRAPGL>K<LVVETLISSLKPIGNIVLICCAFFIIFGIL1323
CACNA1SLESSAISVVKILRVLRVLRPLRAINRAKGL>K<HVVQCMFVAISTIGNIVLVTTLLQFMFACI945
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1321 for SCN5A.