Paralogue Annotation for SCN5A residue 789

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 789
Reference Amino Acid: V - Valine
Protein Domain: TM Domain 2


Paralogue Variants mapped to SCN5A residue 789

No paralogue variants have been mapped to residue 789 for SCN5A.



SCN5AIFTAEMTFKIIALDPYYYFQQGWNIFDSII>V<ILSLMELGLSRMS-----NLSVLRSFRLLR814
SCN1AIFTAEMFLKIIAMDPYYYFQEGWNIFDGFI>V<TLSLVELGLANVE-----GLSVLRSFRLLR865
SCN2AIFTAEMFLKIIAMDPYYYFQEGWNIFDGFI>V<SLSLMELGLANVE-----GLSVLRSFRLLR856
SCN3AIFTAEMVLKIIAMDPYYYFQEGWNIFDGII>V<SLSLMELGLSNVE-----GLSVLRSFRLLR857
SCN4AIFTAEMVLKLIAMDPYEYFQQGWNIFDSII>V<TLSLVELGLANVQ-----GLSVLRSFRLLR675
SCN7AIFTAEMIFKIIAMHPYGYFQVGWNIFDSMI>V<FHGLIELCLANVA-----GMALLRLFRMLR602
SCN8AIFTAEMFLKLIAMDPYYYFQEGWNIFDGFI>V<SLSLMELSLADVE-----GLSVLRSFRLLR850
SCN9AIFAAEMVLKLIAMDPYEYFQVGWNIFDSLI>V<TLSLVELFLADVE-----GLSVLRSFRLLR830
SCN10AFFTAEMVFKIIAFDPYYYFQKKWNIFDCII>V<TVSLLELGVAKKG-----SLSVLRSFRLLR762
SCN11AIFIAEMCLKIIALDPYHYFRRGWNIFDSIV>A<LLSFADVMNCVLQKR---SWPFLRSFRVLR676
CACNA1ALFMSEMFIKMYGLGTRPYFHSSFNCFDCGV>I<IGSIFEVIWAVIKPGTSFGISVLRALRLLR589
CACNA1BLFLTEMSLKMYGLGPRSYFRSSFNCFDFGV>I<VGSVFEVVWAAIKPGSSFGISVLRALRLLR585
CACNA1CLFTAEMLLKMYSLGLQAYFVSLFNRFDCFV>V<CGGILETILVETKIMSPLGISVLRCVRLLR626
CACNA1DLFTCEMLVKMYSLGLQAYFVSLFNRFDCFV>V<CGGITETILVELEIMSPLGISVFRCVRLLR645
CACNA1ELFLLEMSLKMYGMGPRLYFHSSFNCFDFGV>T<VGSIFEVVWAIFRPGTSFGISVLRALRLLR578
CACNA1FLFTVEMLLKLYGLGPSAYVSSFFNRFDCFV>V<CGGILETTLVEVGAMQPLGISVLRCVRLLR631
CACNA1GLFALEMLLKLLVYGPFGYIKNPYNIFDGVI>V<VISVWEIVGQQGG-----GLSVLRTFRLMR840
CACNA1HMFALEMLLKLLACGPLGYIRNPYNIFDGII>V<VISVWEIVGQADG-----GLSVLRTFRLLR890
CACNA1IMFALEMILKLAAFGLFDYLRNPYNIFDSII>V<IISIWEIVGQADG-----GLSVLRTFRLLR737
CACNA1SLFTTEMLMKMYGLGLRQYFMSIFNRFDCFV>V<CSGILEILLVESGAMTPLGISVLRCIRLLR534
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V789Ic.2365G>A Inherited ArrhythmiaBrSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaBrS An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm. 2010 7(1):33-46. 20129283
p.V789Ac.2366T>C Putative BenignSIFT:
Polyphen: