Paralogue Annotation for SCN5A residue 795

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 795
Reference Amino Acid: E - Glutamate
Protein Domain: TM Domain 2


Paralogue Variants mapped to SCN5A residue 795

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AE846GDravet syndromeHigh5 24168886

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.



SCN5ATFKIIALDPYYYFQQGWNIFDSIIVILSLM>E<LGLSRMS-----NLSVLRSFRLLRVFKLAK820
SCN1AFLKIIAMDPYYYFQEGWNIFDGFIVTLSLV>E<LGLANVE-----GLSVLRSFRLLRVFKLAK871
SCN2AFLKIIAMDPYYYFQEGWNIFDGFIVSLSLM>E<LGLANVE-----GLSVLRSFRLLRVFKLAK862
SCN3AVLKIIAMDPYYYFQEGWNIFDGIIVSLSLM>E<LGLSNVE-----GLSVLRSFRLLRVFKLAK863
SCN4AVLKLIAMDPYEYFQQGWNIFDSIIVTLSLV>E<LGLANVQ-----GLSVLRSFRLLRVFKLAK681
SCN7AIFKIIAMHPYGYFQVGWNIFDSMIVFHGLI>E<LCLANVA-----GMALLRLFRMLRIFKLGK608
SCN8AFLKLIAMDPYYYFQEGWNIFDGFIVSLSLM>E<LSLADVE-----GLSVLRSFRLLRVFKLAK856
SCN9AVLKLIAMDPYEYFQVGWNIFDSLIVTLSLV>E<LFLADVE-----GLSVLRSFRLLRVFKLAK836
SCN10AVFKIIAFDPYYYFQKKWNIFDCIIVTVSLL>E<LGVAKKG-----SLSVLRSFRLLRVFKLAK768
SCN11ACLKIIALDPYHYFRRGWNIFDSIVALLSFA>D<VMNCVLQKR---SWPFLRSFRVLRVFKLAK682
CACNA1AFIKMYGLGTRPYFHSSFNCFDCGVIIGSIF>E<VIWAVIKPGTSFGISVLRALRLLRIFKVTK595
CACNA1BSLKMYGLGPRSYFRSSFNCFDFGVIVGSVF>E<VVWAAIKPGSSFGISVLRALRLLRIFKVTK591
CACNA1CLLKMYSLGLQAYFVSLFNRFDCFVVCGGIL>E<TILVETKIMSPLGISVLRCVRLLRIFKITR632
CACNA1DLVKMYSLGLQAYFVSLFNRFDCFVVCGGIT>E<TILVELEIMSPLGISVFRCVRLLRIFKVTR651
CACNA1ESLKMYGMGPRLYFHSSFNCFDFGVTVGSIF>E<VVWAIFRPGTSFGISVLRALRLLRIFKITK584
CACNA1FLLKLYGLGPSAYVSSFFNRFDCFVVCGGIL>E<TTLVEVGAMQPLGISVLRCVRLLRIFKVTR637
CACNA1GLLKLLVYGPFGYIKNPYNIFDGVIVVISVW>E<IVGQQGG-----GLSVLRTFRLMRVLKLVR846
CACNA1HLLKLLACGPLGYIRNPYNIFDGIIVVISVW>E<IVGQADG-----GLSVLRTFRLLRVLKLVR896
CACNA1IILKLAAFGLFDYLRNPYNIFDSIIVIISIW>E<IVGQADG-----GLSVLRTFRLLRVLKLVR743
CACNA1SLMKMYGLGLRQYFMSIFNRFDCFVVCSGIL>E<ILLVESGAMTPLGISVLRCIRLLRIFKITK540
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 795 for SCN5A.