Paralogue Annotation for SCN5A residue 250

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 250
Reference Amino Acid: L - Leucine
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 250

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN4AL250PIsolated eyelid closure myotoniaHigh9 19876661
SCN9AL245VErythermalgia, primaryHigh9 25995458, 25995458

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.



SCN5ATFRVLRALKTISVIPGLKTIVGALIQSVKK>L<ADVMVLTVFCLSVFALIGLQLFMGNLRHKC280
SCN1ATFRVLRALKTISVIPGLKTIVGALIQSVKK>L<SDVMILTVFCLSVFALIGLQLFMGNLRNKC277
SCN2ATFRVLRALKTISVIPGLKTIVGALIQSVKK>L<SDVMILTVFCLSVFALIGLQLFMGNLRNKC278
SCN3ATFRVLRALKTISVIPGLKTIVGALIQSVKK>L<SDVMILTVFCLSVFALIGLQLFMGNLRNKC277
SCN4ATFRVLRALKTITVIPGLKTIVGALIQSVKK>L<SDVMILTVFCLSVFALVGLQLFMGNLRQKC280
SCN7ATARTLRILKIIPLNQGLKSLVGVLIHCLKQ>L<IGVIILTLFFLSIFSLIGMGLFMGNLKHKC267
SCN8ATFRVLRALKTISVIPGLKTIVGALIQSVKK>L<SDVMILTVFCLSVFALIGLQLFMGNLRNKC281
SCN9ATFRVLRALKTISVIPGLKTIVGALIQSVKK>L<SDVMILTVFCLSVFALIGLQLFMGNLKHKC275
SCN10ATFRVLRALKTVSVIPGLKVIVGALIHSVKK>L<ADVTILTIFCLSVFALVGLQLFKGNLKNKC276
SCN11ATFRVFRALKAISVVSRLKVIVGALLRSVKK>L<VNVIILTFFCLSIFALVGQQLFMGSLNLKC283
CACNA1AAVRVLRPLKLVSGIPSLQVVLKSIMKAMIP>L<LQIGLLLFFAILIFAIIGLEFYMGKFHTTC256
CACNA1BAVRVLRPLKLVSGIPSLQVVLKSIMKAMVP>L<LQIGLLLFFAILMFAIIGLEFYMGKFHKAC253
CACNA1CAFRVLRPLRLVSGVPSLQVVLNSIIKAMVP>L<LHIALLVLFVIIIYAIIGLELFMGKMHKTC298
CACNA1DAFRVLRPLRLVSGVPSLQVVLNSIIKAMVP>L<LHIALLVLFVIIIYAIIGLELFIGKMHKTC301
CACNA1EAVRVLRPLKLVSGIPSLQIVLKSIMKAMVP>L<LQIGLLLFFAILMFAIIGLEFYSGKLHRAC251
CACNA1FAFRVLRPLRLVSGVPSLHIVLNSIMKALVP>L<LHIALLVLFVIIIYAIIGLELFLGRMHKTC267
CACNA1GTVRVLRPLRAINRVPSMRILVTLLLDTLPM>L<GNVLLLCFFVFFIFGIVGVQLWAGLLRNRC241
CACNA1HTVRVLRPLRAINRVPSMRILVTLLLDTLPM>L<GNVLLLCFFVFFIFGIVGVQLWAGLLRNRC260
CACNA1ITVRVLRPLKAINRVPSMRILVNLLLDTLPM>L<GNVLLLCFFVFFIFGIIGVQLWAGLLRNRC239
CACNA1SAFRVLRPLRLVSGVPSLQVVLNSIFKAMLP>L<FHIALLVLFMVIIYAIIGLELFKGKMHKTC226
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 250 for SCN5A.