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

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN3A	K354Q	Epilepsy, cryptogenic pediatric partial	High	8	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.

SCN5A	LKNGTSDVLLCGNSSDAG-T-C-PEGYRCL>K<AGENPDHGYTSFDSFAWAFLALFRLMTQDC	373
SCN1A	FLEGFLDALLCGNSSDAG-Q-C-PEGYMCV>K<AGRNPNYGYTSFDTFSWAFLSLFRLMTQDF	383
SCN2A	FLEGQNDALLCGNSSDAG-Q-C-PEGYICV>K<AGRNPNYGYTSFDTFSWAFLSLFRLMTQDF	385
SCN3A	VLDGQKDPLLCGNGSDAG-Q-C-PEGYICV>K<AGRNPNYGYTSFDTFSWAFLSLFRLMTQDY	384
SCN4A	FLEGSNDALLCGNSSDAG-H-C-PEGYECI>K<TGRNPNYGYTSYDTFSWAFLALFRLMTQDY	407
SCN7A	YLEGERYALLCGNRTDAG-Q-C-PEGYVCV>K<AGINPDQGFTNFDSFGWALFALFRLMAQDY	354
SCN8A	TVPGMLEPLLCGNSSDAG-Q-C-PEGYQCM>K<AGRNPNYGYTSFDTFSWAFLALFRLMTQDY	371
SCN9A	YLEGSKDALLCGFSTDSG-Q-C-PEGYTCV>K<IGRNPDYGYTSFDTFSWAFLALFRLMTQDY	362
SCN10A	NKRGTSDPLLCGNGSDSG-H-C-PDGYICL>K<TSDNPDFNYTSFDSFAWAFLSLFRLMTQDS	357
SCN11A	KKENSPEFKMCGIWMGNS-A-C-SIQYECK>H<TKINPDYNYTNFDNFGWSFLAMFRLMTQDS	360
CACNA1A	---E--SPAPCGTEEPA-RT-C-PNGTKCQ>P<YWEGPNNGITQFDNILFAVLTVFQCITMEG	319
CACNA1B	---V--GDFPCGKEAPA-RL-C-EGDTECR>E<YWPGPNFGITNFDNILFAILTVFQCITMEG	315
CACNA1C	---D--DPSPCALETGHGRQ-CQN-GTVCK>P<GWDGPKHGITNFDNFAFAMLTVFQCITMEG	364
CACNA1D	---E--DPAPCAFSGNGR-Q-CTANGTECR>S<GWVGPNGGITNFDNFAFAMLTVFQCITMEG	365
CACNA1E	---D--PPHPCGVQG------C-PAGYEC->K<DWIGPNDGITQFDNILFAVLTVFQCITMEG	310
CACNA1F	---E--DPSPCASSGSGR-A-CTLNQTECR>G<RWPGPNGGITNFDNFFFAMLTVFQCVTMEG	331
CACNA1G	YNS---------SSNTTC-VNWNQYYTNCS>A<GEHNPFKGAINFDNIGYAWIAIFQVITLEG	355
CACNA1H	YTQP--QAEGVGAARNAC-INWNQYYNVCR>S<GDSNPHNGAINFDNIGYAWIAIFQVITLEG	379
CACNA1I	YDFG--AGRQDLNASGLC-VNWNRYYNVCR>T<GSANPHKGAINFDNIGYAWIVIFQVITLEG	358
CACNA1S	---E--EPSPCARTGSGR-R-CTINGSECR>G<GWPGPNHGITHFDNFGFSMLTVYQCITMEG	293
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

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