Paralogue Annotation for SCN5A residue 783

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 783
Reference Amino Acid: I - Isoleucine
Protein Domain: TM Domain 2


Paralogue Variants mapped to SCN5A residue 783

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1SR498LTakotsubo (stress) cardiomyopathyMedium9 25132214, 25735680
CACNA1CR590SBrugada syndromeMedium9 24981977
CACNA1SR498HExertional heat illnessMedium9 25658027

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.



SCN5ANLVFTGIFTAEMTFKIIALDPYYYFQQGWN>I<FDSIIVILSLMELGLSRMS-----NLSVLR808
SCN1ANLVFTGIFTAEMFLKIIAMDPYYYFQEGWN>I<FDGFIVTLSLVELGLANVE-----GLSVLR859
SCN2ANLVFTGIFTAEMFLKIIAMDPYYYFQEGWN>I<FDGFIVSLSLMELGLANVE-----GLSVLR850
SCN3ANLVFTGIFTAEMVLKIIAMDPYYYFQEGWN>I<FDGIIVSLSLMELGLSNVE-----GLSVLR851
SCN4ANLVFTGIFTAEMVLKLIAMDPYEYFQQGWN>I<FDSIIVTLSLVELGLANVQ-----GLSVLR669
SCN7ANLVFIGIFTAEMIFKIIAMHPYGYFQVGWN>I<FDSMIVFHGLIELCLANVA-----GMALLR596
SCN8ANLVFTGIFTAEMFLKLIAMDPYYYFQEGWN>I<FDGFIVSLSLMELSLADVE-----GLSVLR844
SCN9ANLVFTGIFAAEMVLKLIAMDPYEYFQVGWN>I<FDSLIVTLSLVELFLADVE-----GLSVLR824
SCN10ANIVFTIFFTAEMVFKIIAFDPYYYFQKKWN>I<FDCIIVTVSLLELGVAKKG-----SLSVLR756
SCN11ANLVFTSIFIAEMCLKIIALDPYHYFRRGWN>I<FDSIVALLSFADVMNCVLQKR---SWPFLR670
CACNA1AEFIFLGLFMSEMFIKMYGLGTRPYFHSSFN>C<FDCGVIIGSIFEVIWAVIKPGTSFGISVLR583
CACNA1BEFVFLGLFLTEMSLKMYGLGPRSYFRSSFN>C<FDFGVIVGSVFEVVWAAIKPGSSFGISVLR579
CACNA1CNKALLALFTAEMLLKMYSLGLQAYFVSLFN>R<FDCFVVCGGILETILVETKIMSPLGISVLR620
CACNA1DNKVLLALFTCEMLVKMYSLGLQAYFVSLFN>R<FDCFVVCGGITETILVELEIMSPLGISVFR639
CACNA1EEFLFLGLFLLEMSLKMYGMGPRLYFHSSFN>C<FDFGVTVGSIFEVVWAIFRPGTSFGISVLR572
CACNA1FNKVLLCLFTVEMLLKLYGLGPSAYVSSFFN>R<FDCFVVCGGILETTLVEVGAMQPLGISVLR625
CACNA1GNIVFTSLFALEMLLKLLVYGPFGYIKNPYN>I<FDGVIVVISVWEIVGQQGG-----GLSVLR834
CACNA1HNIVFTSMFALEMLLKLLACGPLGYIRNPYN>I<FDGIIVVISVWEIVGQADG-----GLSVLR884
CACNA1INVVFTSMFALEMILKLAAFGLFDYLRNPYN>I<FDSIIVIISIWEIVGQADG-----GLSVLR731
CACNA1SNRVLLSLFTTEMLMKMYGLGLRQYFMSIFN>R<FDCFVVCSGILEILLVESGAMTPLGISVLR528
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 783 for SCN5A.