Paralogue Annotation for SCN5A residue 343

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 343
Reference Amino Acid: K - Lysine
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 343

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN3AK354QEpilepsy, cryptogenic pediatric partialHigh8 18242854, 20420834, 24157691

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.



SCN5ALKNGTSDVLLCGNSSDAG-T-C-PEGYRCL>K<AGENPDHGYTSFDSFAWAFLALFRLMTQDC373
SCN1AFLEGFLDALLCGNSSDAG-Q-C-PEGYMCV>K<AGRNPNYGYTSFDTFSWAFLSLFRLMTQDF383
SCN2AFLEGQNDALLCGNSSDAG-Q-C-PEGYICV>K<AGRNPNYGYTSFDTFSWAFLSLFRLMTQDF385
SCN3AVLDGQKDPLLCGNGSDAG-Q-C-PEGYICV>K<AGRNPNYGYTSFDTFSWAFLSLFRLMTQDY384
SCN4AFLEGSNDALLCGNSSDAG-H-C-PEGYECI>K<TGRNPNYGYTSYDTFSWAFLALFRLMTQDY407
SCN7AYLEGERYALLCGNRTDAG-Q-C-PEGYVCV>K<AGINPDQGFTNFDSFGWALFALFRLMAQDY354
SCN8ATVPGMLEPLLCGNSSDAG-Q-C-PEGYQCM>K<AGRNPNYGYTSFDTFSWAFLALFRLMTQDY371
SCN9AYLEGSKDALLCGFSTDSG-Q-C-PEGYTCV>K<IGRNPDYGYTSFDTFSWAFLALFRLMTQDY362
SCN10ANKRGTSDPLLCGNGSDSG-H-C-PDGYICL>K<TSDNPDFNYTSFDSFAWAFLSLFRLMTQDS357
SCN11AKKENSPEFKMCGIWMGNS-A-C-SIQYECK>H<TKINPDYNYTNFDNFGWSFLAMFRLMTQDS360
CACNA1A---E--SPAPCGTEEPA-RT-C-PNGTKCQ>P<YWEGPNNGITQFDNILFAVLTVFQCITMEG319
CACNA1B---V--GDFPCGKEAPA-RL-C-EGDTECR>E<YWPGPNFGITNFDNILFAILTVFQCITMEG315
CACNA1C---D--DPSPCALETGHGRQ-CQN-GTVCK>P<GWDGPKHGITNFDNFAFAMLTVFQCITMEG364
CACNA1D---E--DPAPCAFSGNGR-Q-CTANGTECR>S<GWVGPNGGITNFDNFAFAMLTVFQCITMEG365
CACNA1E---D--PPHPCGVQG------C-PAGYEC->K<DWIGPNDGITQFDNILFAVLTVFQCITMEG310
CACNA1F---E--DPSPCASSGSGR-A-CTLNQTECR>G<RWPGPNGGITNFDNFFFAMLTVFQCVTMEG331
CACNA1GYNS---------SSNTTC-VNWNQYYTNCS>A<GEHNPFKGAINFDNIGYAWIAIFQVITLEG355
CACNA1HYTQP--QAEGVGAARNAC-INWNQYYNVCR>S<GDSNPHNGAINFDNIGYAWIAIFQVITLEG379
CACNA1IYDFG--AGRQDLNASGLC-VNWNRYYNVCR>T<GSANPHKGAINFDNIGYAWIVIFQVITLEG358
CACNA1S---E--EPSPCARTGSGR-R-CTINGSECR>G<GWPGPNHGITHFDNFGFSMLTVYQCITMEG293
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 343 for SCN5A.