Paralogue Annotation for SCN5A residue 1506

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1506
Reference Amino Acid: P - Proline
Protein Domain: Interdomain Linker III-IV


Paralogue Variants mapped to SCN5A residue 1506

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AP1519TDravet syndromeHigh4 23398550

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.



SCN5AQKKYY------NAM---KK-L----G-SKK>P<--------QKPIPRPLNKYQGFIFDIVTKQ1528
SCN1AQKKYY------NAM---KK-L----G-SKK>P<--------QKPIPRPGNKFQGMVFDFVTRQ1541
SCN2AQKKYY------NAM---KK-L----G-SKK>P<--------QKPIPRPANKFQGMVFDFVTKQ1531
SCN3AQKKYY------NAM---KK-L----G-SKK>P<--------QKPIPRPANKFQGMVFDFVTRQ1526
SCN4AQKKYY------NAM---KK-L----G-SKK>P<--------QKPIPRPQNKIQGMVYDLVTKQ1353
SCN7AQRKQY------RRL---KK-L----M-YED>S<--------QRPVPRPLNKLQGFIFDVVTSQ1251
SCN8AQKKYY------NAM---KK-L----G-SKK>P<--------QKPIPRPLNKIQGIVFDFVTQQ1522
SCN9AQKKYY------NAM---KK-L----G-SKK>P<--------QKPIPRPGNKIQGCIFDLVTNQ1504
SCN10AQKKYY------NAM---KK-L----G-SKK>P<--------QKPIPRPLNKFQGFVFDIVTRQ1476
SCN11AQKKYY------NAM---KK-L----G-SKK>P<--------QKPIPRPLNKCQGLVFDIVTSQ1366
CACNA1AEKNER------ACI---DFAI------SAK>P<-------LTRHMPQNKQSFQYRMWQFVVSP1566
CACNA1BEKNER------ACI---DFAI------SAK>P<-------LTRYMPQNRQSFQYKTWTFVVSP1472
CACNA1CDKNQR------QCV---EYAL------KAR>P<-------LRRYIPK--NQHQYKVWYVVNST1219
CACNA1DDKNQR------QCV---EYAL------KAR>P<-------LRRYIPK--NPYQYKFWYVVNSS1225
CACNA1EEKNER------ACI---DFAI------SAK>P<-------LTRYMPQNRHTFQYRVWHFVVSP1478
CACNA1FDKNQR------QCV---EYAL------KAQ>P<-------LRRYIPK--NPHQYRVWATVNSA1190
CACNA1GKRLRRLEKKRRNLML--DDVI-----ASGS>S<ASAASEAQCKPYYSDYSRFRLLVHHLCTSH1611
CACNA1HK----------RLRRLERRRRSTFPSPEAQ>-<--------RRPYYADYSPTRRSIHSLCTSH1617
CACNA1IK----------RLRRLEKKRR------KAQ>-<--------RLPYYATYCHTRLLIHSMCTSH1487
CACNA1SDKNQR------QCV---QYAL------KAR>P<-------LRCYIPK--NPYQYQVWYIVTSS1118
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.P1506Tc.4516C>A Inherited ArrhythmiaBrSSIFT:
Polyphen:
ReportsInherited ArrhythmiaBrS Genetics can contribute to the prognosis of Brugada syndrome: a pilot model for risk stratification. Eur J Hum Genet. 2013 21(9):911-7. doi: 10.1038/ejhg.2012.289. 23321620
p.P1506Lc.4517C>T Putative BenignSIFT:
Polyphen:
p.P1506Sc.4516C>T Inherited ArrhythmiaBrSSIFT:
Polyphen:
ReportsInherited ArrhythmiaBrS Complex genetic background in a large family with Brugada syndrome. Physiol Rep. 2015 3(1). pii: e12256. doi: 10.14814/phy2.12256. Print 25626866