Paralogue Annotation for SCN5A residue 252

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 252
Reference Amino Acid: D - Aspartate
Protein Domain: TM Domain 1

Paralogue Variants mapped to SCN5A residue 252

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	D249E	Dravet syndrome	High	9	24679980

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	RVLRALKTISVIPGLKTIVGALIQSVKKLA>D<VMVLTVFCLSVFALIGLQLFMGNLRHKCVR	282
SCN1A	RVLRALKTISVIPGLKTIVGALIQSVKKLS>D<VMILTVFCLSVFALIGLQLFMGNLRNKCIQ	279
SCN2A	RVLRALKTISVIPGLKTIVGALIQSVKKLS>D<VMILTVFCLSVFALIGLQLFMGNLRNKCLQ	280
SCN3A	RVLRALKTISVIPGLKTIVGALIQSVKKLS>D<VMILTVFCLSVFALIGLQLFMGNLRNKCLQ	279
SCN4A	RVLRALKTITVIPGLKTIVGALIQSVKKLS>D<VMILTVFCLSVFALVGLQLFMGNLRQKCVR	282
SCN7A	RTLRILKIIPLNQGLKSLVGVLIHCLKQLI>G<VIILTLFFLSIFSLIGMGLFMGNLKHKCFR	269
SCN8A	RVLRALKTISVIPGLKTIVGALIQSVKKLS>D<VMILTVFCLSVFALIGLQLFMGNLRNKCVV	283
SCN9A	RVLRALKTISVIPGLKTIVGALIQSVKKLS>D<VMILTVFCLSVFALIGLQLFMGNLKHKCFR	277
SCN10A	RVLRALKTVSVIPGLKVIVGALIHSVKKLA>D<VTILTIFCLSVFALVGLQLFKGNLKNKCVK	278
SCN11A	RVFRALKAISVVSRLKVIVGALLRSVKKLV>N<VIILTFFCLSIFALVGQQLFMGSLNLKCIS	285
CACNA1A	RVLRPLKLVSGIPSLQVVLKSIMKAMIPLL>Q<IGLLLFFAILIFAIIGLEFYMGKFHTTCFE	258
CACNA1B	RVLRPLKLVSGIPSLQVVLKSIMKAMVPLL>Q<IGLLLFFAILMFAIIGLEFYMGKFHKACFP	255
CACNA1C	RVLRPLRLVSGVPSLQVVLNSIIKAMVPLL>H<IALLVLFVIIIYAIIGLELFMGKMHKTCYN	300
CACNA1D	RVLRPLRLVSGVPSLQVVLNSIIKAMVPLL>H<IALLVLFVIIIYAIIGLELFIGKMHKTCFF	303
CACNA1E	RVLRPLKLVSGIPSLQIVLKSIMKAMVPLL>Q<IGLLLFFAILMFAIIGLEFYSGKLHRACFM	253
CACNA1F	RVLRPLRLVSGVPSLHIVLNSIMKALVPLL>H<IALLVLFVIIIYAIIGLELFLGRMHKTCYF	269
CACNA1G	RVLRPLRAINRVPSMRILVTLLLDTLPMLG>N<VLLLCFFVFFIFGIVGVQLWAGLLRNRCFL	243
CACNA1H	RVLRPLRAINRVPSMRILVTLLLDTLPMLG>N<VLLLCFFVFFIFGIVGVQLWAGLLRNRCFL	262
CACNA1I	RVLRPLKAINRVPSMRILVNLLLDTLPMLG>N<VLLLCFFVFFIFGIIGVQLWAGLLRNRCFL	241
CACNA1S	RVLRPLRLVSGVPSLQVVLNSIFKAMLPLF>H<IALLVLFMVIIYAIIGLELFKGKMHKTCYF	228
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

There are currently no reported variants at residue 252 for SCN5A.