Paralogue Annotation for SCN5A residue 802

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 802
Reference Amino Acid: S - Serine
Protein Domain: TM Domain 2


Paralogue Variants mapped to SCN5A residue 802

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AE853KMyoclonic epilepsy of infancyMedium5 17054684

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.



SCN5ADPYYYFQQGWNIFDSIIVILSLMELGLSRM>S<-----NLSVLRSFRLLRVFKLAKSWPTLNT827
SCN1ADPYYYFQEGWNIFDGFIVTLSLVELGLANV>E<-----GLSVLRSFRLLRVFKLAKSWPTLNM878
SCN2ADPYYYFQEGWNIFDGFIVSLSLMELGLANV>E<-----GLSVLRSFRLLRVFKLAKSWPTLNM869
SCN3ADPYYYFQEGWNIFDGIIVSLSLMELGLSNV>E<-----GLSVLRSFRLLRVFKLAKSWPTLNM870
SCN4ADPYEYFQQGWNIFDSIIVTLSLVELGLANV>Q<-----GLSVLRSFRLLRVFKLAKSWPTLNM688
SCN7AHPYGYFQVGWNIFDSMIVFHGLIELCLANV>A<-----GMALLRLFRMLRIFKLGKYWPTFQI615
SCN8ADPYYYFQEGWNIFDGFIVSLSLMELSLADV>E<-----GLSVLRSFRLLRVFKLAKSWPTLNM863
SCN9ADPYEYFQVGWNIFDSLIVTLSLVELFLADV>E<-----GLSVLRSFRLLRVFKLAKSWPTLNM843
SCN10ADPYYYFQKKWNIFDCIIVTVSLLELGVAKK>G<-----SLSVLRSFRLLRVFKLAKSWPTLNT775
SCN11ADPYHYFRRGWNIFDSIVALLSFADVMNCVL>Q<KR---SWPFLRSFRVLRVFKLAKSWPTLNT689
CACNA1AGTRPYFHSSFNCFDCGVIIGSIFEVIWAVI>K<PGTSFGISVLRALRLLRIFKVTKYWASLRN602
CACNA1BGPRSYFRSSFNCFDFGVIVGSVFEVVWAAI>K<PGSSFGISVLRALRLLRIFKVTKYWSSLRN598
CACNA1CGLQAYFVSLFNRFDCFVVCGGILETILVET>K<IMSPLGISVLRCVRLLRIFKITRYWNSLSN639
CACNA1DGLQAYFVSLFNRFDCFVVCGGITETILVEL>E<IMSPLGISVFRCVRLLRIFKVTRHWTSLSN658
CACNA1EGPRLYFHSSFNCFDFGVTVGSIFEVVWAIF>R<PGTSFGISVLRALRLLRIFKITKYWASLRN591
CACNA1FGPSAYVSSFFNRFDCFVVCGGILETTLVEV>G<AMQPLGISVLRCVRLLRIFKVTRHWASLSN644
CACNA1GGPFGYIKNPYNIFDGVIVVISVWEIVGQQG>G<-----GLSVLRTFRLMRVLKLVRFLPALQR853
CACNA1HGPLGYIRNPYNIFDGIIVVISVWEIVGQAD>G<-----GLSVLRTFRLLRVLKLVRFLPALRR903
CACNA1IGLFDYLRNPYNIFDSIIVIISIWEIVGQAD>G<-----GLSVLRTFRLLRVLKLVRFMPALRR750
CACNA1SGLRQYFMSIFNRFDCFVVCSGILEILLVES>G<AMTPLGISVLRCIRLLRIFKITKYWTSLSN547
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 802 for SCN5A.