Paralogue Annotation for SCN5A residue 854

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 854
Reference Amino Acid: A - Alanine
Protein Domain: TM Domain 2


Paralogue Variants mapped to SCN5A residue 854

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN4AA715SMyotoniaHigh9 22094069
SCN8AA890TEpileptic encephalopathyHigh9 25568300, 25785782

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.



SCN5ATLNTLIKIIGNSVGALGNLTLVLAIIVFIF>A<VVGMQLFGKNYSEL-RDS----D-SG---L875
SCN1ATLNMLIKIIGNSVGALGNLTLVLAIIVFIF>A<VVGMQLFGKSYKDC-VCK----I-AS-DCQ928
SCN2ATLNMLIKIIGNSVGALGNLTLVLAIIVFIF>A<VVGMQLFGKSYKEC-VCK----I-SN-DCE919
SCN3ATLNMLIKIIGNSVGALGNLTLVLAIIVFIF>A<VVGMQLFGKSYKEC-VCK----I-ND-DCT920
SCN4ATLNMLIKIIGNSVGALGNLTLVLAIIVFIF>A<VVGMQLFGKSYKEC-VCK----I-AL-DCN738
SCN7ATFQILMWSLSNSWVALKDLVLLLFTFIFFS>A<AFGMKLFGKNYEEF-VCH----I-DK-DCQ665
SCN8ATLNMLIKIIGNSVGALGNLTLVLAIIVFIF>A<VVGMQLFGKSYKEC-VCK----I-NQ-DCE913
SCN9ATLNMLIKIIGNSVGALGNLTLVLAIIVFIF>A<VVGMQLFGKSYKEC-VCK----I-ND-DCT893
SCN10ATLNTLIKIIGNSVGALGNLTIILAIIVFVF>A<LVGKQLLGENYRNN-RKN----I-SAPHED826
SCN11ATLNTLIKIIGNSVGALGSLTVVLVIVIFIF>S<VVGMQLFGRSFNSQ-KSPKLCNPTGPTVSC745
CACNA1ASLRNLVVSLLNSMKSIISLLFLLFLFIVVF>A<LLGMQLFGGQFNFD-E------------G-645
CACNA1BSLRNLVVSLLNSMKSIISLLFLLFLFIVVF>A<LLGMQLFGGQFNFQ-D------------E-641
CACNA1CSLSNLVASLLNSVRSIASLLLLLFLFIIIF>S<LLGMQLFGGKFNFD-E------------MQ683
CACNA1DSLSNLVASLLNSMKSIASLLLLLFLFIIIF>S<LLGMQLFGGKFNFD-E------------TQ702
CACNA1ESLRNLVVSLMSSMKSIISLLFLLFLFIVVF>A<LLGMQLFGGRFNFN-D------------G-634
CACNA1FSLSNLVASLLNSMKSIASLLLLLFLFIIIF>S<LLGMQLFGGKFNFD-Q------------TH688
CACNA1GALQRQLVVLMKTMDNVATFCMLLMLFIFIF>S<ILGMHLFGCKFASER---------DG-DTL900
CACNA1HALRRQLVVLVKTMDNVATFCTLLMLFIFIF>S<ILGMHLFGCKFSLKTD--------TG-DTV951
CACNA1IALRRQLVVLMKTMDNVATFCMLLMLFIFIF>S<ILGMHIFGCKFSLRTD--------TG-DTV798
CACNA1SSLSNLVASLLNSIRSIASLLLLLFLFIVIF>A<LLGMQLFGGRYDFE-D------------TE591
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 854 for SCN5A.