Paralogue Annotation for SCN5A residue 737

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 737
Reference Amino Acid: E - Glutamate
Protein Domain: TM Domain 2

Paralogue Variants mapped to SCN5A residue 737

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	E788K	Dravet syndrome	High	9	18076640

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	KQGVKLVVMDPFTDLTITMCIVLNTLFMAL>E<HYNMTSEFEEMLQVGNLVFTGIFTAEMTFK	767
SCN1A	KHVVNLVVMDPFVDLAITICIVLNTLFMAM>E<HYPMTDHFNNVLTVGNLVFTGIFTAEMFLK	818
SCN2A	KHLVNLVVMDPFVDLAITICIVLNTLFMAM>E<HYPMTEQFSSVLSVGNLVFTGIFTAEMFLK	809
SCN3A	KHLVNLIVMDPFVDLAITICIVLNTLFMAM>E<HYPMTEQFSSVLTVGNLVFTGIFTAEMVLK	810
SCN4A	KNIIHLIVMDPFVDLGITICIVLNTLFMAM>E<HYPMTEHFDNVLTVGNLVFTGIFTAEMVLK	628
SCN7A	KEFVHRIIMAPFTDLFLIICIILNVCFLTL>E<HYPMSKQTNTLLNIGNLVFIGIFTAEMIFK	555
SCN8A	KEIVNLIVMDPFVDLAITICIVLNTLFMAM>E<HHPMTPQFEHVLAVGNLVFTGIFTAEMFLK	803
SCN9A	KKCIYFIVMDPFVDLAITICIVLNTLFMAM>E<HHPMTEEFKNVLAIGNLVFTGIFAAEMVLK	783
SCN10A	KTILFGLVTDPFAELTITLCIVVNTIFMAM>E<HHGMSPTFEAMLQIGNIVFTIFFTAEMVFK	715
SCN11A	KKVLRTVMTDPFTELAITICIIINTVFLAM>E<HHKMEASFEKMLNIGNLVFTSIFIAEMCLK	627
CACNA1A	RFYIRRMVKTQAFYWTVLSLVALNTLCVAI>V<HYNQPEWLSDFLYYAEFIFLGLFMSEMFIK	537
CACNA1B	RFFIRRMVKAQSFYWVVLCVVALNTLCVAM>V<HYNQPRRLTTTLYFAEFVFLGLFLTEMSLK	533
CACNA1C	RRKCRAAVKSNVFYWLVIFLVFLNTLTIAS>E<HYNQPNWLTEVQDTANKALLALFTAEMLLK	574
CACNA1D	RRRCRAAVKSVTFYWLVIVLVFLNTLTISS>E<HYNQPDWLTQIQDIANKVLLALFTCEMLVK	593
CACNA1E	RISIRHMVKSQVFYWIVLSLVALNTACVAI>V<HHNQPQWLTHLLYYAEFLFLGLFLLEMSLK	526
CACNA1F	RARCRRAVKSNACYWAVLLLVFLNTLTIAS>E<HHGQPVWLTQIQEYANKVLLCLFTVEMLLK	579
CACNA1G	CDTFRKIVDSKYFGRGIMIAILVNTLSMGI>E<YHEQPEELTNALEISNIVFTSLFALEMLLK	793
CACNA1H	SGKLRRIVDSKYFSRGIMMAILVNTLSMGV>E<YHEQPEELTNALEISNIVFTSMFALEMLLK	843
CACNA1I	RAKLRGIVDSKYFNRGIMMAILVNTVSMGI>E<HHEQPEELTNILEICNVVFTSMFALEMILK	690
CACNA1S	RWKCHDIVKSKVFYWLVILIVALNTLSIAS>E<HHNQPLWLTRLQDIANRVLLSLFTTEMLMK	482
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Glu737Lys	c.2209G>A	Unknown			SIFT: Polyphen: