Paralogue Annotation for SCN5A residue 233

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 233
Reference Amino Acid: I - Isoleucine
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 233

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN9AI228MDravet syndrome ?High9 19763161, 21698661, 22136189, 23280954, 26264438, 25993546, 25993546

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-----------NLSALRTFRVLRALKTISV>I<PGLKTIVGALIQSVKKLADVMVLTVFCLSV263
SCN1A-----------NVSALRTFRVLRALKTISV>I<PGLKTIVGALIQSVKKLSDVMILTVFCLSV260
SCN2A-----------NVSALRTFRVLRALKTISV>I<PGLKTIVGALIQSVKKLSDVMILTVFCLSV261
SCN3A-----------NVSALRTFRVLRALKTISV>I<PGLKTIVGALIQSVKKLSDVMILTVFCLSV260
SCN4A-----------NISALRTFRVLRALKTITV>I<PGLKTIVGALIQSVKKLSDVMILTVFCLSV263
SCN7A-----------FIPTLQTARTLRILKIIPL>N<QGLKSLVGVLIHCLKQLIGVIILTLFFLSI250
SCN8A-----------NVSALRTFRVLRALKTISV>I<PGLKTIVGALIQSVKKLSDVMILTVFCLSV264
SCN9A-----------NVSALRTFRVLRALKTISV>I<PGLKTIVGALIQSVKKLSDVMILTVFCLSV258
SCN10A-----------GISGLRTFRVLRALKTVSV>I<PGLKVIVGALIHSVKKLADVTILTIFCLSV259
SCN11A----------IKLLPLRTFRVFRALKAISV>V<SRLKVIVGALLRSVKKLVNVIILTFFCLSI266
CACNA1A-----------DLRTLRAVRVLRPLKLVSG>I<PSLQVVLKSIMKAMIPLLQIGLLLFFAILI239
CACNA1B-----------DLRTLRAVRVLRPLKLVSG>I<PSLQVVLKSIMKAMVPLLQIGLLLFFAILM236
CACNA1CANALGGKGAGFDVKALRAFRVLRPLRLVSG>V<PSLQVVLNSIIKAMVPLLHIALLVLFVIII281
CACNA1DGNHSSGKSGGFDVKALRAFRVLRPLRLVSG>V<PSLQVVLNSIIKAMVPLLHIALLVLFVIII284
CACNA1E--------THVDLRTLRAVRVLRPLKLVSG>I<PSLQIVLKSIMKAMVPLLQIGLLLFFAILM234
CACNA1FAPHTGGKPGGFDVKALRAFRVLRPLRLVSG>V<PSLHIVLNSIMKALVPLLHIALLVLFVIII250
CACNA1G---------NVSFSAVRTVRVLRPLRAINR>V<PSMRILVTLLLDTLPMLGNVLLLCFFVFFI224
CACNA1H---------NVSLSAIRTVRVLRPLRAINR>V<PSMRILVTLLLDTLPMLGNVLLLCFFVFFI243
CACNA1I---------NINLSAIRTVRVLRPLKAINR>V<PSMRILVNLLLDTLPMLGNVLLLCFFVFFI222
CACNA1STAPMSSKGAGLDVKALRAFRVLRPLRLVSG>V<PSLQVVLNSIFKAMLPLFHIALLVLFMVII209
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 233 for SCN5A.