Paralogue Annotation for SCN5A residue 385

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 385
Reference Amino Acid: A - Alanine
Protein Domain: TM Domain 1

Paralogue Variants mapped to SCN5A residue 385

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	A395P	Cryptogenic generalised epilepsy	High	8	17347258

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	FDSFAWAFLALFRLMTQDCWERLYQQTLRS>A<GKIY-MIFFMLVIFLGSFYLVNLILAVVAM	414
SCN1A	FDTFSWAFLSLFRLMTQDFWENLYQLTLRA>A<GKTY-MIFFVLVIFLGSFYLINLILAVVAM	424
SCN2A	FDTFSWAFLSLFRLMTQDFWENLYQLTLRA>A<GKTY-MIFFVLVIFLGSFYLINLILAVVAM	426
SCN3A	FDTFSWAFLSLFRLMTQDYWENLYQLTLRA>A<GKTY-MIFFVLVIFLGSFYLVNLILAVVAM	425
SCN4A	YDTFSWAFLALFRLMTQDYWENLFQLTLRA>A<GKTY-MIFFVVIIFLGSFYLINLILAVVAM	448
SCN7A	FDSFGWALFALFRLMAQDYPEVLYHQILYA>S<GKVY-MIFFVVVSFLFSFYMASLFLGILAM	395
SCN8A	FDTFSWAFLALFRLMTQDYWENLYQLTLRA>A<GKTY-MIFFVLVIFVGSFYLVNLILAVVAM	412
SCN9A	FDTFSWAFLALFRLMTQDYWENLYQQTLRA>A<GKTY-MIFFVVVIFLGSFYLINLILAVVAM	403
SCN10A	FDSFAWAFLSLFRLMTQDSWERLYQQTLRT>S<GKIY-MIFFVLVIFLGSFYLVNLILAVVTM	398
SCN11A	FDNFGWSFLAMFRLMTQDSWEKLYQQTLRT>T<GLYS-VFFFIVVIFLGSFYLINLTLAVVTM	401
CACNA1A	FDNILFAVLTVFQCITMEGWTDLLYNSNDA>S<GNTWNWLYFIPLIIIGSFFMLNLVLGVLSG	361
CACNA1B	FDNILFAILTVFQCITMEGWTDILYNTNDA>A<GNTWNWLYFIPLIIIGSFFMLNLVLGVLSG	357
CACNA1C	FDNFAFAMLTVFQCITMEGWTDVLYWVNDA>V<GRDWPWIYFVTLIIIGSFFVLNLVLGVLSG	406
CACNA1D	FDNFAFAMLTVFQCITMEGWTDVLYWVNDA>I<GWEWPWVYFVSLIILGSFFVLNLVLGVLSG	407
CACNA1E	FDNILFAVLTVFQCITMEGWTTVLYNTNDA>L<GATWNWLYFIPLIIIGSFFVLNLVLGVLSG	352
CACNA1F	FDNFFFAMLTVFQCVTMEGWTDVLYWMQDA>M<GYELPWVYFVSLVIFGSFFVLNLVLGVLSG	373
CACNA1G	FDNIGYAWIAIFQVITLEGWVDIMYFVMDA>H<SF-YNFIYFILLIIVGSFFMINLCLVVIAT	396
CACNA1H	FDNIGYAWIAIFQVITLEGWVDIMYYVMDA>H<SF-YNFIYFILLIIVGSFFMINLCLVVIAT	420
CACNA1I	FDNIGYAWIVIFQVITLEGWVEIMYYVMDA>H<SF-YNFIYFILLIIVGSFFMINLCLVVIAT	399
CACNA1S	FDNFGFSMLTVYQCITMEGWTDVLYWVNDA>I<GNEWPWIYFVTLILLGSFFILNLVLGVLSG	335
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A385T	c.1153G>A	Putative Benign			SIFT: Polyphen: