Paralogue Annotation for SCN5A residue 555

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 555
Reference Amino Acid: E - Glutamate
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to SCN5A residue 555

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN9AE582KDravet syndromeMedium3 23895530

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.



SCN5ALG-----SEA-------DFADDENSTAGES>E<SHHTSLLVPWPL--RRT-SA---QGQPSPG579
SCN1AVG-----SEN-------DFADDEHSTFEDN>E<SRRDSLFVPRRHGERRN-----------SN621
SCN2AIG-----SEN-------DFADDEHSTFEDN>D<SRRDSLFVPHRHGERRH-----------SN624
SCN3AVG-----SEN-------DFADDEHSTFEDS>E<SRRDSLFVPHRHGERRN-----------SN624
SCN4A------------------------------>-<------------------------------
SCN7A------------------------------>-<------------------------------
SCN8APG-----SEN-------EFADDEHSTVEES>E<GRRDSLFIPIRARERRS------SYSGYSG619
SCN9AIG-----SET-------EFADDEHSIFGDN>E<SRRGSLFVPHRPQERRS-----------SN601
SCN10AIS-----LPE-------GVTDDG-VFPGDH>E<SHRGSLLLGGGAGQQG------------PL549
SCN11A------------------------------>-<------------------------------
CACNA1A-------SKT-------------------->-<------------------------------431
CACNA1B-------SRN-------------------->-<------------------------------427
CACNA1C-T-----SET-------------------->-<------------------------------471
CACNA1D-T-----SET-------------------->-<------------------------------471
CACNA1E-------SRT-------------------->-<------------------------------420
CACNA1FRGRLRWFSHS-------------------->-<------------------------------457
CACNA1G-------PS-TPALSGAPPGGAESVHSFYH>A<DCHLEPVRCQAPP---PRSPSEASG-RTV-584
CACNA1H-------PPSPPSPGRGPPD-AESVHSIYH>A<DCHIEGPQERARVAHAAATA-AASL-R-LA605
CACNA1I--------A--------SPGNDHSGRELCP>Q<HSPLDATPHTLVQPIPA-------------544
CACNA1S-G-----SDT-------------------->-<------------------------------395
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E555Kc.1663G>A Inherited ArrhythmiaBrSrs199473123SIFT: deleterious
Polyphen: possibly damaging
ReportsInherited ArrhythmiaBrS Nucleotide changes in the translated region of SCN5A from Japanese patients with Brugada syndrome and control subjects. Life Sci. 2003 72(21):2391-9. 12639704
Inherited ArrhythmiaBrS Brugada syndrome disease phenotype explained in apparently benign sodium channel mutations. Circ Cardiovasc Genet. 2014 7(2):123-31. doi: 10.1161/CIRCGENETICS.113.000292. 24573164