Paralogue Annotation for SCN5A residue 785

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 785
Reference Amino Acid: D - Aspartate
Protein Domain: TM Domain 2


Paralogue Variants mapped to SCN5A residue 785

No paralogue variants have been mapped to residue 785 for SCN5A.



SCN5AVFTGIFTAEMTFKIIALDPYYYFQQGWNIF>D<SIIVILSLMELGLSRMS-----NLSVLRSF810
SCN1AVFTGIFTAEMFLKIIAMDPYYYFQEGWNIF>D<GFIVTLSLVELGLANVE-----GLSVLRSF861
SCN2AVFTGIFTAEMFLKIIAMDPYYYFQEGWNIF>D<GFIVSLSLMELGLANVE-----GLSVLRSF852
SCN3AVFTGIFTAEMVLKIIAMDPYYYFQEGWNIF>D<GIIVSLSLMELGLSNVE-----GLSVLRSF853
SCN4AVFTGIFTAEMVLKLIAMDPYEYFQQGWNIF>D<SIIVTLSLVELGLANVQ-----GLSVLRSF671
SCN7AVFIGIFTAEMIFKIIAMHPYGYFQVGWNIF>D<SMIVFHGLIELCLANVA-----GMALLRLF598
SCN8AVFTGIFTAEMFLKLIAMDPYYYFQEGWNIF>D<GFIVSLSLMELSLADVE-----GLSVLRSF846
SCN9AVFTGIFAAEMVLKLIAMDPYEYFQVGWNIF>D<SLIVTLSLVELFLADVE-----GLSVLRSF826
SCN10AVFTIFFTAEMVFKIIAFDPYYYFQKKWNIF>D<CIIVTVSLLELGVAKKG-----SLSVLRSF758
SCN11AVFTSIFIAEMCLKIIALDPYHYFRRGWNIF>D<SIVALLSFADVMNCVLQKR---SWPFLRSF672
CACNA1AIFLGLFMSEMFIKMYGLGTRPYFHSSFNCF>D<CGVIIGSIFEVIWAVIKPGTSFGISVLRAL585
CACNA1BVFLGLFLTEMSLKMYGLGPRSYFRSSFNCF>D<FGVIVGSVFEVVWAAIKPGSSFGISVLRAL581
CACNA1CALLALFTAEMLLKMYSLGLQAYFVSLFNRF>D<CFVVCGGILETILVETKIMSPLGISVLRCV622
CACNA1DVLLALFTCEMLVKMYSLGLQAYFVSLFNRF>D<CFVVCGGITETILVELEIMSPLGISVFRCV641
CACNA1ELFLGLFLLEMSLKMYGMGPRLYFHSSFNCF>D<FGVTVGSIFEVVWAIFRPGTSFGISVLRAL574
CACNA1FVLLCLFTVEMLLKLYGLGPSAYVSSFFNRF>D<CFVVCGGILETTLVEVGAMQPLGISVLRCV627
CACNA1GVFTSLFALEMLLKLLVYGPFGYIKNPYNIF>D<GVIVVISVWEIVGQQGG-----GLSVLRTF836
CACNA1HVFTSMFALEMLLKLLACGPLGYIRNPYNIF>D<GIIVVISVWEIVGQADG-----GLSVLRTF886
CACNA1IVFTSMFALEMILKLAAFGLFDYLRNPYNIF>D<SIIVIISIWEIVGQADG-----GLSVLRTF733
CACNA1SVLLSLFTTEMLMKMYGLGLRQYFMSIFNRF>D<CFVVCSGILEILLVESGAMTPLGISVLRCI530
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.D785Nc.2353G>A Inherited ArrhythmiaBrSSIFT:
Polyphen:
ReportsInherited ArrhythmiaBrS Brugada syndrome with a novel missense mutation in SCN5A gene: a case report from Bangladesh. Indian Heart J. 2014 66(1):104-7. doi: 10.1016/j.ihj.2013.12.003. 24581105