Paralogue Annotation for SCN5A residue 1502

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1502
Reference Amino Acid: G - Glycine
Protein Domain: Interdomain Linker III-IV


Paralogue Variants mapped to SCN5A residue 1502

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AG1515RLenox–Gastaut syndromeMedium2 25108116

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.



SCN5AFMTEEQKKYY------NAM---KK-L---->G<-SKKP--------QKPIPRPLNKYQGFIFD1523
SCN1AFMTEEQKKYY------NAM---KK-L---->G<-SKKP--------QKPIPRPGNKFQGMVFD1536
SCN2AFMTEEQKKYY------NAM---KK-L---->G<-SKKP--------QKPIPRPANKFQGMVFD1526
SCN3AFMTEEQKKYY------NAM---KK-L---->G<-SKKP--------QKPIPRPANKFQGMVFD1521
SCN4AFMTEEQKKYY------NAM---KK-L---->G<-SKKP--------QKPIPRPQNKIQGMVYD1348
SCN7AFITVKQRKQY------RRL---KK-L---->M<-YEDS--------QRPVPRPLNKLQGFIFD1246
SCN8AFMTEEQKKYY------NAM---KK-L---->G<-SKKP--------QKPIPRPLNKIQGIVFD1517
SCN9AFMTEEQKKYY------NAM---KK-L---->G<-SKKP--------QKPIPRPGNKIQGCIFD1499
SCN10AFMTEEQKKYY------NAM---KK-L---->G<-SKKP--------QKPIPRPLNKFQGFVFD1471
SCN11AFMTEEQKKYY------NAM---KK-L---->G<-SKKP--------QKPIPRPLNKCQGLVFD1361
CACNA1AEEYSLEKNER------ACI---DFAI---->-<-SAKP-------LTRHMPQNKQSFQYRMWQ1561
CACNA1BSECSLEKNER------ACI---DFAI---->-<-SAKP-------LTRYMPQNRQSFQYKTWT1467
CACNA1CKNCELDKNQR------QCV---EYAL---->-<-KARP-------LRRYIPK--NQHQYKVWY1214
CACNA1DKNCELDKNQR------QCV---EYAL---->-<-KARP-------LRRYIPK--NPYQYKFWY1220
CACNA1EEECSLEKNER------ACI---DFAI---->-<-SAKP-------LTRYMPQNRHTFQYRVWH1473
CACNA1FQNCELDKNQR------QCV---EYAL---->-<-KAQP-------LRRYIPK--NPHQYRVWA1185
CACNA1GRRREEKRLRRLEKKRRNLML--DDVI---->-<ASGSSASAASEAQCKPYYSDYSRFRLLVHH1606
CACNA1HRRREEK----------RLRRLERRRRSTFP>S<PEAQ---------RRPYYADYSPTRRSIHS1612
CACNA1IRRREEK----------RLRRLEKKRR---->-<-KAQ---------RLPYYATYCHTRLLIHS1482
CACNA1SKNCELDKNQR------QCV---QYAL---->-<-KARP-------LRCYIPK--NPYQYQVWY1113
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.G1502Sc.4504G>A Inherited ArrhythmiaBrSSIFT: deleterious
Polyphen: benign
ReportsInherited ArrhythmiaBrS Genotype-phenotype relationship in Brugada syndrome: electrocardiographic features differentiate SCN5A-related patients from non-SCN5A-related patients. J Am Coll Cardiol. 2002 40(2):350-6. 12106943
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