No paralogue variants have been mapped to residue 785 for SCN5A.
SCN5A | VFTGIFTAEMTFKIIALDPYYYFQQGWNIF>D<SIIVILSLMELGLSRMS-----NLSVLRSF | 810 |
SCN1A | VFTGIFTAEMFLKIIAMDPYYYFQEGWNIF>D<GFIVTLSLVELGLANVE-----GLSVLRSF | 861 |
SCN2A | VFTGIFTAEMFLKIIAMDPYYYFQEGWNIF>D<GFIVSLSLMELGLANVE-----GLSVLRSF | 852 |
SCN3A | VFTGIFTAEMVLKIIAMDPYYYFQEGWNIF>D<GIIVSLSLMELGLSNVE-----GLSVLRSF | 853 |
SCN4A | VFTGIFTAEMVLKLIAMDPYEYFQQGWNIF>D<SIIVTLSLVELGLANVQ-----GLSVLRSF | 671 |
SCN7A | VFIGIFTAEMIFKIIAMHPYGYFQVGWNIF>D<SMIVFHGLIELCLANVA-----GMALLRLF | 598 |
SCN8A | VFTGIFTAEMFLKLIAMDPYYYFQEGWNIF>D<GFIVSLSLMELSLADVE-----GLSVLRSF | 846 |
SCN9A | VFTGIFAAEMVLKLIAMDPYEYFQVGWNIF>D<SLIVTLSLVELFLADVE-----GLSVLRSF | 826 |
SCN10A | VFTIFFTAEMVFKIIAFDPYYYFQKKWNIF>D<CIIVTVSLLELGVAKKG-----SLSVLRSF | 758 |
SCN11A | VFTSIFIAEMCLKIIALDPYHYFRRGWNIF>D<SIVALLSFADVMNCVLQKR---SWPFLRSF | 672 |
CACNA1A | IFLGLFMSEMFIKMYGLGTRPYFHSSFNCF>D<CGVIIGSIFEVIWAVIKPGTSFGISVLRAL | 585 |
CACNA1B | VFLGLFLTEMSLKMYGLGPRSYFRSSFNCF>D<FGVIVGSVFEVVWAAIKPGSSFGISVLRAL | 581 |
CACNA1C | ALLALFTAEMLLKMYSLGLQAYFVSLFNRF>D<CFVVCGGILETILVETKIMSPLGISVLRCV | 622 |
CACNA1D | VLLALFTCEMLVKMYSLGLQAYFVSLFNRF>D<CFVVCGGITETILVELEIMSPLGISVFRCV | 641 |
CACNA1E | LFLGLFLLEMSLKMYGMGPRLYFHSSFNCF>D<FGVTVGSIFEVVWAIFRPGTSFGISVLRAL | 574 |
CACNA1F | VLLCLFTVEMLLKLYGLGPSAYVSSFFNRF>D<CFVVCGGILETTLVEVGAMQPLGISVLRCV | 627 |
CACNA1G | VFTSLFALEMLLKLLVYGPFGYIKNPYNIF>D<GVIVVISVWEIVGQQGG-----GLSVLRTF | 836 |
CACNA1H | VFTSMFALEMLLKLLACGPLGYIRNPYNIF>D<GIIVVISVWEIVGQADG-----GLSVLRTF | 886 |
CACNA1I | VFTSMFALEMILKLAAFGLFDYLRNPYNIF>D<SIIVIISIWEIVGQADG-----GLSVLRTF | 733 |
CACNA1S | VLLSLFTTEMLMKMYGLGLRQYFMSIFNRF>D<CFVVCSGILEILLVESGAMTPLGISVLRCI | 530 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D785N | c.2353G>A | Inherited Arrhythmia | BrS | SIFT: Polyphen: | |
Reports | Inherited Arrhythmia | BrS | 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 |