Paralogue Annotation for SCN5A residue 238

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 238
Reference Amino Acid: T - Threonine
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 238

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN2AT236SOhtahara syndromeHigh9 23935176

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------NLSALRTFRVLRALKTISVIPGLK>T<IVGALIQSVKKLADVMVLTVFCLSVFALIG268
SCN1A------NVSALRTFRVLRALKTISVIPGLK>T<IVGALIQSVKKLSDVMILTVFCLSVFALIG265
SCN2A------NVSALRTFRVLRALKTISVIPGLK>T<IVGALIQSVKKLSDVMILTVFCLSVFALIG266
SCN3A------NVSALRTFRVLRALKTISVIPGLK>T<IVGALIQSVKKLSDVMILTVFCLSVFALIG265
SCN4A------NISALRTFRVLRALKTITVIPGLK>T<IVGALIQSVKKLSDVMILTVFCLSVFALVG268
SCN7A------FIPTLQTARTLRILKIIPLNQGLK>S<LVGVLIHCLKQLIGVIILTLFFLSIFSLIG255
SCN8A------NVSALRTFRVLRALKTISVIPGLK>T<IVGALIQSVKKLSDVMILTVFCLSVFALIG269
SCN9A------NVSALRTFRVLRALKTISVIPGLK>T<IVGALIQSVKKLSDVMILTVFCLSVFALIG263
SCN10A------GISGLRTFRVLRALKTVSVIPGLK>V<IVGALIHSVKKLADVTILTIFCLSVFALVG264
SCN11A-----IKLLPLRTFRVFRALKAISVVSRLK>V<IVGALLRSVKKLVNVIILTFFCLSIFALVG271
CACNA1A------DLRTLRAVRVLRPLKLVSGIPSLQ>V<VLKSIMKAMIPLLQIGLLLFFAILIFAIIG244
CACNA1B------DLRTLRAVRVLRPLKLVSGIPSLQ>V<VLKSIMKAMVPLLQIGLLLFFAILMFAIIG241
CACNA1CGKGAGFDVKALRAFRVLRPLRLVSGVPSLQ>V<VLNSIIKAMVPLLHIALLVLFVIIIYAIIG286
CACNA1DGKSGGFDVKALRAFRVLRPLRLVSGVPSLQ>V<VLNSIIKAMVPLLHIALLVLFVIIIYAIIG289
CACNA1E---THVDLRTLRAVRVLRPLKLVSGIPSLQ>I<VLKSIMKAMVPLLQIGLLLFFAILMFAIIG239
CACNA1FGKPGGFDVKALRAFRVLRPLRLVSGVPSLH>I<VLNSIMKALVPLLHIALLVLFVIIIYAIIG255
CACNA1G----NVSFSAVRTVRVLRPLRAINRVPSMR>I<LVTLLLDTLPMLGNVLLLCFFVFFIFGIVG229
CACNA1H----NVSLSAIRTVRVLRPLRAINRVPSMR>I<LVTLLLDTLPMLGNVLLLCFFVFFIFGIVG248
CACNA1I----NINLSAIRTVRVLRPLKAINRVPSMR>I<LVNLLLDTLPMLGNVLLLCFFVFFIFGIIG227
CACNA1SSKGAGLDVKALRAFRVLRPLRLVSGVPSLQ>V<VLNSIFKAMLPLFHIALLVLFMVIIYAIIG214
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 238 for SCN5A.