Paralogue Annotation for SCN5A residue 243

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 243
Reference Amino Acid: L - Leucine
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 243

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AL240PGeneralized epilepsy with febrile seizures plusHigh9

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-NLSALRTFRVLRALKTISVIPGLKTIVGA>L<IQSVKKLADVMVLTVFCLSVFALIGLQLFM273
SCN1A-NVSALRTFRVLRALKTISVIPGLKTIVGA>L<IQSVKKLSDVMILTVFCLSVFALIGLQLFM270
SCN2A-NVSALRTFRVLRALKTISVIPGLKTIVGA>L<IQSVKKLSDVMILTVFCLSVFALIGLQLFM271
SCN3A-NVSALRTFRVLRALKTISVIPGLKTIVGA>L<IQSVKKLSDVMILTVFCLSVFALIGLQLFM270
SCN4A-NISALRTFRVLRALKTITVIPGLKTIVGA>L<IQSVKKLSDVMILTVFCLSVFALVGLQLFM273
SCN7A-FIPTLQTARTLRILKIIPLNQGLKSLVGV>L<IHCLKQLIGVIILTLFFLSIFSLIGMGLFM260
SCN8A-NVSALRTFRVLRALKTISVIPGLKTIVGA>L<IQSVKKLSDVMILTVFCLSVFALIGLQLFM274
SCN9A-NVSALRTFRVLRALKTISVIPGLKTIVGA>L<IQSVKKLSDVMILTVFCLSVFALIGLQLFM268
SCN10A-GISGLRTFRVLRALKTVSVIPGLKVIVGA>L<IHSVKKLADVTILTIFCLSVFALVGLQLFK269
SCN11AIKLLPLRTFRVFRALKAISVVSRLKVIVGA>L<LRSVKKLVNVIILTFFCLSIFALVGQQLFM276
CACNA1A-DLRTLRAVRVLRPLKLVSGIPSLQVVLKS>I<MKAMIPLLQIGLLLFFAILIFAIIGLEFYM249
CACNA1B-DLRTLRAVRVLRPLKLVSGIPSLQVVLKS>I<MKAMVPLLQIGLLLFFAILMFAIIGLEFYM246
CACNA1CFDVKALRAFRVLRPLRLVSGVPSLQVVLNS>I<IKAMVPLLHIALLVLFVIIIYAIIGLELFM291
CACNA1DFDVKALRAFRVLRPLRLVSGVPSLQVVLNS>I<IKAMVPLLHIALLVLFVIIIYAIIGLELFI294
CACNA1EVDLRTLRAVRVLRPLKLVSGIPSLQIVLKS>I<MKAMVPLLQIGLLLFFAILMFAIIGLEFYS244
CACNA1FFDVKALRAFRVLRPLRLVSGVPSLHIVLNS>I<MKALVPLLHIALLVLFVIIIYAIIGLELFL260
CACNA1GVSFSAVRTVRVLRPLRAINRVPSMRILVTL>L<LDTLPMLGNVLLLCFFVFFIFGIVGVQLWA234
CACNA1HVSLSAIRTVRVLRPLRAINRVPSMRILVTL>L<LDTLPMLGNVLLLCFFVFFIFGIVGVQLWA253
CACNA1IINLSAIRTVRVLRPLKAINRVPSMRILVNL>L<LDTLPMLGNVLLLCFFVFFIFGIIGVQLWA232
CACNA1SLDVKALRAFRVLRPLRLVSGVPSLQVVLNS>I<FKAMLPLFHIALLVLFMVIIYAIIGLELFK219
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 243 for SCN5A.