Paralogue Annotation for SCN5A residue 810

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 810
Reference Amino Acid: F - Phenylalanine
Protein Domain: TM Domain 2


Paralogue Variants mapped to SCN5A residue 810

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN4AF671SMyotonia, non-dystrophicHigh9 18337100, 26252573
SCN8AF846SMigrating partial seizures of infancyHigh9 24888894

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.



SCN5ADSIIVILSLMELGLSRMS-----NLSVLRS>F<RLLRVFKLAKSWPTLNTLIKIIGNSVGALG840
SCN1ADGFIVTLSLVELGLANVE-----GLSVLRS>F<RLLRVFKLAKSWPTLNMLIKIIGNSVGALG891
SCN2ADGFIVSLSLMELGLANVE-----GLSVLRS>F<RLLRVFKLAKSWPTLNMLIKIIGNSVGALG882
SCN3ADGIIVSLSLMELGLSNVE-----GLSVLRS>F<RLLRVFKLAKSWPTLNMLIKIIGNSVGALG883
SCN4ADSIIVTLSLVELGLANVQ-----GLSVLRS>F<RLLRVFKLAKSWPTLNMLIKIIGNSVGALG701
SCN7ADSMIVFHGLIELCLANVA-----GMALLRL>F<RMLRIFKLGKYWPTFQILMWSLSNSWVALK628
SCN8ADGFIVSLSLMELSLADVE-----GLSVLRS>F<RLLRVFKLAKSWPTLNMLIKIIGNSVGALG876
SCN9ADSLIVTLSLVELFLADVE-----GLSVLRS>F<RLLRVFKLAKSWPTLNMLIKIIGNSVGALG856
SCN10ADCIIVTVSLLELGVAKKG-----SLSVLRS>F<RLLRVFKLAKSWPTLNTLIKIIGNSVGALG788
SCN11ADSIVALLSFADVMNCVLQKR---SWPFLRS>F<RVLRVFKLAKSWPTLNTLIKIIGNSVGALG702
CACNA1ADCGVIIGSIFEVIWAVIKPGTSFGISVLRA>L<RLLRIFKVTKYWASLRNLVVSLLNSMKSII615
CACNA1BDFGVIVGSVFEVVWAAIKPGSSFGISVLRA>L<RLLRIFKVTKYWSSLRNLVVSLLNSMKSII611
CACNA1CDCFVVCGGILETILVETKIMSPLGISVLRC>V<RLLRIFKITRYWNSLSNLVASLLNSVRSIA652
CACNA1DDCFVVCGGITETILVELEIMSPLGISVFRC>V<RLLRIFKVTRHWTSLSNLVASLLNSMKSIA671
CACNA1EDFGVTVGSIFEVVWAIFRPGTSFGISVLRA>L<RLLRIFKITKYWASLRNLVVSLMSSMKSII604
CACNA1FDCFVVCGGILETTLVEVGAMQPLGISVLRC>V<RLLRIFKVTRHWASLSNLVASLLNSMKSIA657
CACNA1GDGVIVVISVWEIVGQQGG-----GLSVLRT>F<RLMRVLKLVRFLPALQRQLVVLMKTMDNVA866
CACNA1HDGIIVVISVWEIVGQADG-----GLSVLRT>F<RLLRVLKLVRFLPALRRQLVVLVKTMDNVA916
CACNA1IDSIIVIISIWEIVGQADG-----GLSVLRT>F<RLLRVLKLVRFMPALRRQLVVLMKTMDNVA763
CACNA1SDCFVVCSGILEILLVESGAMTPLGISVLRC>I<RLLRIFKITKYWTSLSNLVASLLNSIRSIA560
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 810 for SCN5A.