Paralogue Annotation for SCN5A residue 791

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 791
Reference Amino Acid: L - Leucine
Protein Domain: TM Domain 2


Paralogue Variants mapped to SCN5A residue 791

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1FG603RAland island eye disease & stationary night blindnMedium5 22194652
SCN1AL842RDravet syndrome C ?High5 21248271

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.



SCN5ATAEMTFKIIALDPYYYFQQGWNIFDSIIVI>L<SLMELGLSRMS-----NLSVLRSFRLLRVF816
SCN1ATAEMFLKIIAMDPYYYFQEGWNIFDGFIVT>L<SLVELGLANVE-----GLSVLRSFRLLRVF867
SCN2ATAEMFLKIIAMDPYYYFQEGWNIFDGFIVS>L<SLMELGLANVE-----GLSVLRSFRLLRVF858
SCN3ATAEMVLKIIAMDPYYYFQEGWNIFDGIIVS>L<SLMELGLSNVE-----GLSVLRSFRLLRVF859
SCN4ATAEMVLKLIAMDPYEYFQQGWNIFDSIIVT>L<SLVELGLANVQ-----GLSVLRSFRLLRVF677
SCN7ATAEMIFKIIAMHPYGYFQVGWNIFDSMIVF>H<GLIELCLANVA-----GMALLRLFRMLRIF604
SCN8ATAEMFLKLIAMDPYYYFQEGWNIFDGFIVS>L<SLMELSLADVE-----GLSVLRSFRLLRVF852
SCN9AAAEMVLKLIAMDPYEYFQVGWNIFDSLIVT>L<SLVELFLADVE-----GLSVLRSFRLLRVF832
SCN10ATAEMVFKIIAFDPYYYFQKKWNIFDCIIVT>V<SLLELGVAKKG-----SLSVLRSFRLLRVF764
SCN11AIAEMCLKIIALDPYHYFRRGWNIFDSIVAL>L<SFADVMNCVLQKR---SWPFLRSFRVLRVF678
CACNA1AMSEMFIKMYGLGTRPYFHSSFNCFDCGVII>G<SIFEVIWAVIKPGTSFGISVLRALRLLRIF591
CACNA1BLTEMSLKMYGLGPRSYFRSSFNCFDFGVIV>G<SVFEVVWAAIKPGSSFGISVLRALRLLRIF587
CACNA1CTAEMLLKMYSLGLQAYFVSLFNRFDCFVVC>G<GILETILVETKIMSPLGISVLRCVRLLRIF628
CACNA1DTCEMLVKMYSLGLQAYFVSLFNRFDCFVVC>G<GITETILVELEIMSPLGISVFRCVRLLRIF647
CACNA1ELLEMSLKMYGMGPRLYFHSSFNCFDFGVTV>G<SIFEVVWAIFRPGTSFGISVLRALRLLRIF580
CACNA1FTVEMLLKLYGLGPSAYVSSFFNRFDCFVVC>G<GILETTLVEVGAMQPLGISVLRCVRLLRIF633
CACNA1GALEMLLKLLVYGPFGYIKNPYNIFDGVIVV>I<SVWEIVGQQGG-----GLSVLRTFRLMRVL842
CACNA1HALEMLLKLLACGPLGYIRNPYNIFDGIIVV>I<SVWEIVGQADG-----GLSVLRTFRLLRVL892
CACNA1IALEMILKLAAFGLFDYLRNPYNIFDSIIVI>I<SIWEIVGQADG-----GLSVLRTFRLLRVL739
CACNA1STTEMLMKMYGLGLRQYFMSIFNRFDCFVVC>S<GILEILLVESGAMTPLGISVLRCIRLLRIF536
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 791 for SCN5A.