Paralogue Annotation for SCN5A residue 249

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 249
Reference Amino Acid: K - Lysine
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 249

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1AP225HHemiplegic migraineMedium9 22784462

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.



SCN5ARTFRVLRALKTISVIPGLKTIVGALIQSVK>K<LADVMVLTVFCLSVFALIGLQLFMGNLRHK279
SCN1ARTFRVLRALKTISVIPGLKTIVGALIQSVK>K<LSDVMILTVFCLSVFALIGLQLFMGNLRNK276
SCN2ARTFRVLRALKTISVIPGLKTIVGALIQSVK>K<LSDVMILTVFCLSVFALIGLQLFMGNLRNK277
SCN3ARTFRVLRALKTISVIPGLKTIVGALIQSVK>K<LSDVMILTVFCLSVFALIGLQLFMGNLRNK276
SCN4ARTFRVLRALKTITVIPGLKTIVGALIQSVK>K<LSDVMILTVFCLSVFALVGLQLFMGNLRQK279
SCN7AQTARTLRILKIIPLNQGLKSLVGVLIHCLK>Q<LIGVIILTLFFLSIFSLIGMGLFMGNLKHK266
SCN8ARTFRVLRALKTISVIPGLKTIVGALIQSVK>K<LSDVMILTVFCLSVFALIGLQLFMGNLRNK280
SCN9ARTFRVLRALKTISVIPGLKTIVGALIQSVK>K<LSDVMILTVFCLSVFALIGLQLFMGNLKHK274
SCN10ARTFRVLRALKTVSVIPGLKVIVGALIHSVK>K<LADVTILTIFCLSVFALVGLQLFKGNLKNK275
SCN11ARTFRVFRALKAISVVSRLKVIVGALLRSVK>K<LVNVIILTFFCLSIFALVGQQLFMGSLNLK282
CACNA1ARAVRVLRPLKLVSGIPSLQVVLKSIMKAMI>P<LLQIGLLLFFAILIFAIIGLEFYMGKFHTT255
CACNA1BRAVRVLRPLKLVSGIPSLQVVLKSIMKAMV>P<LLQIGLLLFFAILMFAIIGLEFYMGKFHKA252
CACNA1CRAFRVLRPLRLVSGVPSLQVVLNSIIKAMV>P<LLHIALLVLFVIIIYAIIGLELFMGKMHKT297
CACNA1DRAFRVLRPLRLVSGVPSLQVVLNSIIKAMV>P<LLHIALLVLFVIIIYAIIGLELFIGKMHKT300
CACNA1ERAVRVLRPLKLVSGIPSLQIVLKSIMKAMV>P<LLQIGLLLFFAILMFAIIGLEFYSGKLHRA250
CACNA1FRAFRVLRPLRLVSGVPSLHIVLNSIMKALV>P<LLHIALLVLFVIIIYAIIGLELFLGRMHKT266
CACNA1GRTVRVLRPLRAINRVPSMRILVTLLLDTLP>M<LGNVLLLCFFVFFIFGIVGVQLWAGLLRNR240
CACNA1HRTVRVLRPLRAINRVPSMRILVTLLLDTLP>M<LGNVLLLCFFVFFIFGIVGVQLWAGLLRNR259
CACNA1IRTVRVLRPLKAINRVPSMRILVNLLLDTLP>M<LGNVLLLCFFVFFIFGIIGVQLWAGLLRNR238
CACNA1SRAFRVLRPLRLVSGVPSLQVVLNSIFKAML>P<LFHIALLVLFMVIIYAIIGLELFKGKMHKT225
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 249 for SCN5A.