Paralogue Annotation for SCN5A residue 375

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 375
Reference Amino Acid: E - Glutamate
Protein Domain: TM Domain 1

Paralogue Variants mapped to SCN5A residue 375

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	E385G	Dravet syndrome	High	9	22071555
SCN1A	E385V	Dravet syndrome	High	9	26169758

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	GENPDHGYTSFDSFAWAFLALFRLMTQDCW>E<RLYQQTLRSAGKIY-MIFFMLVIFLGSFYL	404
SCN1A	GRNPNYGYTSFDTFSWAFLSLFRLMTQDFW>E<NLYQLTLRAAGKTY-MIFFVLVIFLGSFYL	414
SCN2A	GRNPNYGYTSFDTFSWAFLSLFRLMTQDFW>E<NLYQLTLRAAGKTY-MIFFVLVIFLGSFYL	416
SCN3A	GRNPNYGYTSFDTFSWAFLSLFRLMTQDYW>E<NLYQLTLRAAGKTY-MIFFVLVIFLGSFYL	415
SCN4A	GRNPNYGYTSYDTFSWAFLALFRLMTQDYW>E<NLFQLTLRAAGKTY-MIFFVVIIFLGSFYL	438
SCN7A	GINPDQGFTNFDSFGWALFALFRLMAQDYP>E<VLYHQILYASGKVY-MIFFVVVSFLFSFYM	385
SCN8A	GRNPNYGYTSFDTFSWAFLALFRLMTQDYW>E<NLYQLTLRAAGKTY-MIFFVLVIFVGSFYL	402
SCN9A	GRNPDYGYTSFDTFSWAFLALFRLMTQDYW>E<NLYQQTLRAAGKTY-MIFFVVVIFLGSFYL	393
SCN10A	SDNPDFNYTSFDSFAWAFLSLFRLMTQDSW>E<RLYQQTLRTSGKIY-MIFFVLVIFLGSFYL	388
SCN11A	KINPDYNYTNFDNFGWSFLAMFRLMTQDSW>E<KLYQQTLRTTGLYS-VFFFIVVIFLGSFYL	391
CACNA1A	WEGPNNGITQFDNILFAVLTVFQCITMEGW>T<DLLYNSNDASGNTWNWLYFIPLIIIGSFFM	351
CACNA1B	WPGPNFGITNFDNILFAILTVFQCITMEGW>T<DILYNTNDAAGNTWNWLYFIPLIIIGSFFM	347
CACNA1C	WDGPKHGITNFDNFAFAMLTVFQCITMEGW>T<DVLYWVNDAVGRDWPWIYFVTLIIIGSFFV	396
CACNA1D	WVGPNGGITNFDNFAFAMLTVFQCITMEGW>T<DVLYWVNDAIGWEWPWVYFVSLIILGSFFV	397
CACNA1E	WIGPNDGITQFDNILFAVLTVFQCITMEGW>T<TVLYNTNDALGATWNWLYFIPLIIIGSFFV	342
CACNA1F	WPGPNGGITNFDNFFFAMLTVFQCVTMEGW>T<DVLYWMQDAMGYELPWVYFVSLVIFGSFFV	363
CACNA1G	EHNPFKGAINFDNIGYAWIAIFQVITLEGW>V<DIMYFVMDAHSF-YNFIYFILLIIVGSFFM	386
CACNA1H	DSNPHNGAINFDNIGYAWIAIFQVITLEGW>V<DIMYYVMDAHSF-YNFIYFILLIIVGSFFM	410
CACNA1I	SANPHKGAINFDNIGYAWIVIFQVITLEGW>V<EIMYYVMDAHSF-YNFIYFILLIIVGSFFM	389
CACNA1S	WPGPNHGITHFDNFGFSMLTVYQCITMEGW>T<DVLYWVNDAIGNEWPWIYFVTLILLGSFFI	325
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

There are currently no reported variants at residue 375 for SCN5A.