Paralogue Annotation for SCN5A residue 807

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 807
Reference Amino Acid: L - Leucine
Protein Domain: TM Domain 2


Paralogue Variants mapped to SCN5A residue 807

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN9AL823RErythermalgia, primaryHigh9 19800314

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.



SCN5ANIFDSIIVILSLMELGLSRMS-----NLSV>L<RSFRLLRVFKLAKSWPTLNTLIKIIGNSVG837
SCN1ANIFDGFIVTLSLVELGLANVE-----GLSV>L<RSFRLLRVFKLAKSWPTLNMLIKIIGNSVG888
SCN2ANIFDGFIVSLSLMELGLANVE-----GLSV>L<RSFRLLRVFKLAKSWPTLNMLIKIIGNSVG879
SCN3ANIFDGIIVSLSLMELGLSNVE-----GLSV>L<RSFRLLRVFKLAKSWPTLNMLIKIIGNSVG880
SCN4ANIFDSIIVTLSLVELGLANVQ-----GLSV>L<RSFRLLRVFKLAKSWPTLNMLIKIIGNSVG698
SCN7ANIFDSMIVFHGLIELCLANVA-----GMAL>L<RLFRMLRIFKLGKYWPTFQILMWSLSNSWV625
SCN8ANIFDGFIVSLSLMELSLADVE-----GLSV>L<RSFRLLRVFKLAKSWPTLNMLIKIIGNSVG873
SCN9ANIFDSLIVTLSLVELFLADVE-----GLSV>L<RSFRLLRVFKLAKSWPTLNMLIKIIGNSVG853
SCN10ANIFDCIIVTVSLLELGVAKKG-----SLSV>L<RSFRLLRVFKLAKSWPTLNTLIKIIGNSVG785
SCN11ANIFDSIVALLSFADVMNCVLQKR---SWPF>L<RSFRVLRVFKLAKSWPTLNTLIKIIGNSVG699
CACNA1ANCFDCGVIIGSIFEVIWAVIKPGTSFGISV>L<RALRLLRIFKVTKYWASLRNLVVSLLNSMK612
CACNA1BNCFDFGVIVGSVFEVVWAAIKPGSSFGISV>L<RALRLLRIFKVTKYWSSLRNLVVSLLNSMK608
CACNA1CNRFDCFVVCGGILETILVETKIMSPLGISV>L<RCVRLLRIFKITRYWNSLSNLVASLLNSVR649
CACNA1DNRFDCFVVCGGITETILVELEIMSPLGISV>F<RCVRLLRIFKVTRHWTSLSNLVASLLNSMK668
CACNA1ENCFDFGVTVGSIFEVVWAIFRPGTSFGISV>L<RALRLLRIFKITKYWASLRNLVVSLMSSMK601
CACNA1FNRFDCFVVCGGILETTLVEVGAMQPLGISV>L<RCVRLLRIFKVTRHWASLSNLVASLLNSMK654
CACNA1GNIFDGVIVVISVWEIVGQQGG-----GLSV>L<RTFRLMRVLKLVRFLPALQRQLVVLMKTMD863
CACNA1HNIFDGIIVVISVWEIVGQADG-----GLSV>L<RTFRLLRVLKLVRFLPALRRQLVVLVKTMD913
CACNA1INIFDSIIVIISIWEIVGQADG-----GLSV>L<RTFRLLRVLKLVRFMPALRRQLVVLMKTMD760
CACNA1SNRFDCFVVCSGILEILLVESGAMTPLGISV>L<RCIRLLRIFKITKYWTSLSNLVASLLNSIR557
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 807 for SCN5A.