Paralogue Annotation for SCN5A residue 584

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 584
Reference Amino Acid: G - Glycine
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to SCN5A residue 584

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AS626GCryptogenic generalised epilepsyLow2 17347258, 24168886

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.



SCN5APL--RRT-SA---QGQPSPGTSA----P-->G<HALHGKKNSTV------------DCNGVVS602
SCN1ARHGERRN-----------SNLSQ----T-->S<RSSRMLAVFPAN----GKMHSTVDCNGVVS652
SCN2ARHGERRH-----------SNVSQ----A-->S<RASRVLPILPMN----GKMHSAVDCNGVVS655
SCN3ARHGERRN-----------SNVSQ----A-->S<MSSRMVPGLPAN----GKMHSTVDCNGVVS655
SCN4A------------------------------>-<---------PAH----GK-----DCNGSLD511
SCN7A------------------------------>-<------------------------------
SCN8ARARERRS------SYSGYSGYSQ----G-->S<RSSRIFPSLRRS----VKRNSTVDCNGVVS650
SCN9ARPQERRS-----------SNISQ----A-->S<RSP---PMLPVN----GKMHSAVDCNGVVS629
SCN10AGAGQQG------------PLPRSPLPQP-->S<NP------D---------------------561
SCN11A------------------------------>-<-----------------------DCQKKPQ493
CACNA1A------------------------------>-<------------------------------
CACNA1B------------------------------>-<------------------------------
CACNA1C------------------------------>-<------------------------------
CACNA1D------------------------------>-<------------------------------
CACNA1E------------------------------>-<------------------------------
CACNA1F------------------------------>-<------------------------------
CACNA1GAPP---PRSPSEASG-RTV--GS----G-->K<VYPTVHTSPPPETLKEKALVEVAASSGPPT618
CACNA1HARVAHAAATA-AASL-R-LATGL----GTM>N<-YPTILPSGVGSGKGSTSPGPKGKWAGGPP641
CACNA1ILVQPIPA----------------------->-<-----------------------TLAS---548
CACNA1S------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.G584Rc.1750G>C Putative BenignSIFT:
Polyphen: