Paralogue Annotation for SCN5A residue 257

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 257
Reference Amino Acid: T - Threonine
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 257

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AT254IFebrile seizures plusHigh9 21248271

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.



SCN5ALKTISVIPGLKTIVGALIQSVKKLADVMVL>T<VFCLSVFALIGLQLFMGNLRHKCVR-----282
SCN1ALKTISVIPGLKTIVGALIQSVKKLSDVMIL>T<VFCLSVFALIGLQLFMGNLRNKCIQ-WP-P282
SCN2ALKTISVIPGLKTIVGALIQSVKKLSDVMIL>T<VFCLSVFALIGLQLFMGNLRNKCLQ-WP-P283
SCN3ALKTISVIPGLKTIVGALIQSVKKLSDVMIL>T<VFCLSVFALIGLQLFMGNLRNKCLQ-WP-P282
SCN4ALKTITVIPGLKTIVGALIQSVKKLSDVMIL>T<VFCLSVFALVGLQLFMGNLRQKCVR-WP-P285
SCN7ALKIIPLNQGLKSLVGVLIHCLKQLIGVIIL>T<LFFLSIFSLIGMGLFMGNLKHKCFR-WP-Q272
SCN8ALKTISVIPGLKTIVGALIQSVKKLSDVMIL>T<VFCLSVFALIGLQLFMGNLRNKCVV-WP--285
SCN9ALKTISVIPGLKTIVGALIQSVKKLSDVMIL>T<VFCLSVFALIGLQLFMGNLKHKCFR-NS--279
SCN10ALKTVSVIPGLKVIVGALIHSVKKLADVTIL>T<IFCLSVFALVGLQLFKGNLKNKCVK-N---279
SCN11ALKAISVVSRLKVIVGALLRSVKKLVNVIIL>T<FFCLSIFALVGQQLFMGSLNLKCIS-R---286
CACNA1ALKLVSGIPSLQVVLKSIMKAMIPLLQIGLL>L<FFAILIFAIIGLEFYMGKFHTTCFE-E-GT261
CACNA1BLKLVSGIPSLQVVLKSIMKAMVPLLQIGLL>L<FFAILMFAIIGLEFYMGKFHKACFP-N-ST258
CACNA1CLRLVSGVPSLQVVLNSIIKAMVPLLHIALL>V<LFVIIIYAIIGLELFMGKMHKTCYNQEGIA305
CACNA1DLRLVSGVPSLQVVLNSIIKAMVPLLHIALL>V<LFVIIIYAIIGLELFIGKMHKTCFF-A-DS306
CACNA1ELKLVSGIPSLQIVLKSIMKAMVPLLQIGLL>L<FFAILMFAIIGLEFYSGKLHRACFM-N-NS256
CACNA1FLRLVSGVPSLHIVLNSIMKALVPLLHIALL>V<LFVIIIYAIIGLELFLGRMHKTCYF-L-GS272
CACNA1GLRAINRVPSMRILVTLLLDTLPMLGNVLLL>C<FFVFFIFGIVGVQLWAGLLRNRCFL-P-EN246
CACNA1HLRAINRVPSMRILVTLLLDTLPMLGNVLLL>C<FFVFFIFGIVGVQLWAGLLRNRCFL-D-SA265
CACNA1ILKAINRVPSMRILVNLLLDTLPMLGNVLLL>C<FFVFFIFGIIGVQLWAGLLRNRCFL-E-EN244
CACNA1SLRLVSGVPSLQVVLNSIFKAMLPLFHIALL>V<LFMVIIYAIIGLELFKGKMHKTCYF-I-GT231
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 257 for SCN5A.