Paralogue Annotation for SCN5A residue 383

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 383
Reference Amino Acid: R - Arginine
Protein Domain: TM Domain 1

Paralogue Variants mapped to SCN5A residue 383

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	R393S	Myoclonic epilepsy of infancy	High	8	17054684
SCN1A	R393C	Myoclonic epilepsy of infancy	High	8	17054684, 21868258, 23934111
SCN1A	R393H	Myoclonic epilepsy of infancy	High	8	12754708, 17054685, 22780858, 23195492

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	TSFDSFAWAFLALFRLMTQDCWERLYQQTL>R<SAGKIY-MIFFMLVIFLGSFYLVNLILAVV	412
SCN1A	TSFDTFSWAFLSLFRLMTQDFWENLYQLTL>R<AAGKTY-MIFFVLVIFLGSFYLINLILAVV	422
SCN2A	TSFDTFSWAFLSLFRLMTQDFWENLYQLTL>R<AAGKTY-MIFFVLVIFLGSFYLINLILAVV	424
SCN3A	TSFDTFSWAFLSLFRLMTQDYWENLYQLTL>R<AAGKTY-MIFFVLVIFLGSFYLVNLILAVV	423
SCN4A	TSYDTFSWAFLALFRLMTQDYWENLFQLTL>R<AAGKTY-MIFFVVIIFLGSFYLINLILAVV	446
SCN7A	TNFDSFGWALFALFRLMAQDYPEVLYHQIL>Y<ASGKVY-MIFFVVVSFLFSFYMASLFLGIL	393
SCN8A	TSFDTFSWAFLALFRLMTQDYWENLYQLTL>R<AAGKTY-MIFFVLVIFVGSFYLVNLILAVV	410
SCN9A	TSFDTFSWAFLALFRLMTQDYWENLYQQTL>R<AAGKTY-MIFFVVVIFLGSFYLINLILAVV	401
SCN10A	TSFDSFAWAFLSLFRLMTQDSWERLYQQTL>R<TSGKIY-MIFFVLVIFLGSFYLVNLILAVV	396
SCN11A	TNFDNFGWSFLAMFRLMTQDSWEKLYQQTL>R<TTGLYS-VFFFIVVIFLGSFYLINLTLAVV	399
CACNA1A	TQFDNILFAVLTVFQCITMEGWTDLLYNSN>D<ASGNTWNWLYFIPLIIIGSFFMLNLVLGVL	359
CACNA1B	TNFDNILFAILTVFQCITMEGWTDILYNTN>D<AAGNTWNWLYFIPLIIIGSFFMLNLVLGVL	355
CACNA1C	TNFDNFAFAMLTVFQCITMEGWTDVLYWVN>D<AVGRDWPWIYFVTLIIIGSFFVLNLVLGVL	404
CACNA1D	TNFDNFAFAMLTVFQCITMEGWTDVLYWVN>D<AIGWEWPWVYFVSLIILGSFFVLNLVLGVL	405
CACNA1E	TQFDNILFAVLTVFQCITMEGWTTVLYNTN>D<ALGATWNWLYFIPLIIIGSFFVLNLVLGVL	350
CACNA1F	TNFDNFFFAMLTVFQCVTMEGWTDVLYWMQ>D<AMGYELPWVYFVSLVIFGSFFVLNLVLGVL	371
CACNA1G	INFDNIGYAWIAIFQVITLEGWVDIMYFVM>D<AHSF-YNFIYFILLIIVGSFFMINLCLVVI	394
CACNA1H	INFDNIGYAWIAIFQVITLEGWVDIMYYVM>D<AHSF-YNFIYFILLIIVGSFFMINLCLVVI	418
CACNA1I	INFDNIGYAWIVIFQVITLEGWVEIMYYVM>D<AHSF-YNFIYFILLIIVGSFFMINLCLVVI	397
CACNA1S	THFDNFGFSMLTVYQCITMEGWTDVLYWVN>D<AIGNEWPWIYFVTLILLGSFFILNLVLGVL	333
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

There are currently no reported variants at residue 383 for SCN5A.