Paralogue Annotation for SCN5A residue 341

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 341
Reference Amino Acid: C - Cysteine
Protein Domain: TM Domain 1

Paralogue Variants mapped to SCN5A residue 341

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
CACNA1A	C287Y	Episodic ataxia 2	High	9	14718690
SCN1A	C351R	Dravet syndrome	High	9	26169758
SCN1A	C351X	Dravet syndrome	High	9	22848613

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	YLLKNGTSDVLLCGNSSDAG-T-C-PEGYR>C<LKAGENPDHGYTSFDSFAWAFLALFRLMTQ	371
SCN1A	HYFLEGFLDALLCGNSSDAG-Q-C-PEGYM>C<VKAGRNPNYGYTSFDTFSWAFLSLFRLMTQ	381
SCN2A	FYFLEGQNDALLCGNSSDAG-Q-C-PEGYI>C<VKAGRNPNYGYTSFDTFSWAFLSLFRLMTQ	383
SCN3A	FYVLDGQKDPLLCGNGSDAG-Q-C-PEGYI>C<VKAGRNPNYGYTSFDTFSWAFLSLFRLMTQ	382
SCN4A	FYFLEGSNDALLCGNSSDAG-H-C-PEGYE>C<IKTGRNPNYGYTSYDTFSWAFLALFRLMTQ	405
SCN7A	FYYLEGERYALLCGNRTDAG-Q-C-PEGYV>C<VKAGINPDQGFTNFDSFGWALFALFRLMAQ	352
SCN8A	FYTVPGMLEPLLCGNSSDAG-Q-C-PEGYQ>C<MKAGRNPNYGYTSFDTFSWAFLALFRLMTQ	369
SCN9A	FYYLEGSKDALLCGFSTDSG-Q-C-PEGYT>C<VKIGRNPDYGYTSFDTFSWAFLALFRLMTQ	360
SCN10A	YINKRGTSDPLLCGNGSDSG-H-C-PDGYI>C<LKTSDNPDFNYTSFDSFAWAFLSLFRLMTQ	355
SCN11A	FEKKENSPEFKMCGIWMGNS-A-C-SIQYE>C<KHTKINPDYNYTNFDNFGWSFLAMFRLMTQ	358
CACNA1A	-----E--SPAPCGTEEPA-RT-C-PNGTK>C<QPYWEGPNNGITQFDNILFAVLTVFQCITM	317
CACNA1B	-----V--GDFPCGKEAPA-RL-C-EGDTE>C<REYWPGPNFGITNFDNILFAILTVFQCITM	313
CACNA1C	-----D--DPSPCALETGHGRQ-CQN-GTV>C<KPGWDGPKHGITNFDNFAFAMLTVFQCITM	362
CACNA1D	-----E--DPAPCAFSGNGR-Q-CTANGTE>C<RSGWVGPNGGITNFDNFAFAMLTVFQCITM	363
CACNA1E	-----D--PPHPCGVQG------C-PAGYE>C<-KDWIGPNDGITQFDNILFAVLTVFQCITM	308
CACNA1F	-----E--DPSPCASSGSGR-A-CTLNQTE>C<RGRWPGPNGGITNFDNFFFAMLTVFQCVTM	329
CACNA1G	EAYNS---------SSNTTC-VNWNQYYTN>C<SAGEHNPFKGAINFDNIGYAWIAIFQVITL	353
CACNA1H	EAYTQP--QAEGVGAARNAC-INWNQYYNV>C<RSGDSNPHNGAINFDNIGYAWIAIFQVITL	377
CACNA1I	DVYDFG--AGRQDLNASGLC-VNWNRYYNV>C<RTGSANPHKGAINFDNIGYAWIVIFQVITL	356
CACNA1S	-----E--EPSPCARTGSGR-R-CTINGSE>C<RGGWPGPNHGITHFDNFGFSMLTVYQCITM	291
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

There are currently no reported variants at residue 341 for SCN5A.