Paralogue Annotation for SCN5A residue 242

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 242
Reference Amino Acid: A - Alanine
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 242

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AA239TMyoclonic epilepsy of infancyHigh9 17347258, 24168886
SCN1AA239VMyoclonic epilepsy of infancyHigh9 19303743
CACNA1FS229PNight blindness, congenital stationary, incompleteMedium9 12111638, 15634789
CACNA1AS218LHemiplegic migraineMedium9 11409427, 18581134, 19104150, 19242091, 19438926, 21824570, 22144569, 15743764, 23985897, 20186955, 23115190, 24849341, 20071244, 25716839, 25741235, 24498617, 26208839, 27476654, 26814174
SCN2AA240SEpilepsy of infancy with migrating focal seizuresHigh9 26291284

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--NLSALRTFRVLRALKTISVIPGLKTIVG>A<LIQSVKKLADVMVLTVFCLSVFALIGLQLF272
SCN1A--NVSALRTFRVLRALKTISVIPGLKTIVG>A<LIQSVKKLSDVMILTVFCLSVFALIGLQLF269
SCN2A--NVSALRTFRVLRALKTISVIPGLKTIVG>A<LIQSVKKLSDVMILTVFCLSVFALIGLQLF270
SCN3A--NVSALRTFRVLRALKTISVIPGLKTIVG>A<LIQSVKKLSDVMILTVFCLSVFALIGLQLF269
SCN4A--NISALRTFRVLRALKTITVIPGLKTIVG>A<LIQSVKKLSDVMILTVFCLSVFALVGLQLF272
SCN7A--FIPTLQTARTLRILKIIPLNQGLKSLVG>V<LIHCLKQLIGVIILTLFFLSIFSLIGMGLF259
SCN8A--NVSALRTFRVLRALKTISVIPGLKTIVG>A<LIQSVKKLSDVMILTVFCLSVFALIGLQLF273
SCN9A--NVSALRTFRVLRALKTISVIPGLKTIVG>A<LIQSVKKLSDVMILTVFCLSVFALIGLQLF267
SCN10A--GISGLRTFRVLRALKTVSVIPGLKVIVG>A<LIHSVKKLADVTILTIFCLSVFALVGLQLF268
SCN11A-IKLLPLRTFRVFRALKAISVVSRLKVIVG>A<LLRSVKKLVNVIILTFFCLSIFALVGQQLF275
CACNA1A--DLRTLRAVRVLRPLKLVSGIPSLQVVLK>S<IMKAMIPLLQIGLLLFFAILIFAIIGLEFY248
CACNA1B--DLRTLRAVRVLRPLKLVSGIPSLQVVLK>S<IMKAMVPLLQIGLLLFFAILMFAIIGLEFY245
CACNA1CGFDVKALRAFRVLRPLRLVSGVPSLQVVLN>S<IIKAMVPLLHIALLVLFVIIIYAIIGLELF290
CACNA1DGFDVKALRAFRVLRPLRLVSGVPSLQVVLN>S<IIKAMVPLLHIALLVLFVIIIYAIIGLELF293
CACNA1EHVDLRTLRAVRVLRPLKLVSGIPSLQIVLK>S<IMKAMVPLLQIGLLLFFAILMFAIIGLEFY243
CACNA1FGFDVKALRAFRVLRPLRLVSGVPSLHIVLN>S<IMKALVPLLHIALLVLFVIIIYAIIGLELF259
CACNA1GNVSFSAVRTVRVLRPLRAINRVPSMRILVT>L<LLDTLPMLGNVLLLCFFVFFIFGIVGVQLW233
CACNA1HNVSLSAIRTVRVLRPLRAINRVPSMRILVT>L<LLDTLPMLGNVLLLCFFVFFIFGIVGVQLW252
CACNA1ININLSAIRTVRVLRPLKAINRVPSMRILVN>L<LLDTLPMLGNVLLLCFFVFFIFGIIGVQLW231
CACNA1SGLDVKALRAFRVLRPLRLVSGVPSLQVVLN>S<IFKAMLPLFHIALLVLFMVIIYAIIGLELF218
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Ala242Valc.725C>T UnknownSIFT:
Polyphen: