Paralogue Annotation for SCN5A residue 1485

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1485
Reference Amino Acid: I - Isoleucine
Protein Domain: Interdomain Linker III-IV


Paralogue Variants mapped to SCN5A residue 1485

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN9AI1461TParoxysmal extreme pain disorderHigh5 17145499, 18599537, 19633428, 20038812, 21115638
SCN1AI1498MHemiplegic migraineHigh5 24707016
SCN8AI1479VEpileptic encephalopathyHigh5 25568300

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.



SCN5AIFGSFFTLNLFIGVIIDNFNQQKKKLGGQD>I<FMTEEQKKYY------NAM---KK-L----1501
SCN1AIFGSFFTLNLFIGVIIDNFNQQKKKFGGQD>I<FMTEEQKKYY------NAM---KK-L----1514
SCN2AIFGSFFTLNLFIGVIIDNFNQQKKKFGGQD>I<FMTEEQKKYY------NAM---KK-L----1504
SCN3AIFGSFFTLNLFIGVIIDNFNQQKKKFGGQD>I<FMTEEQKKYY------NAM---KK-L----1499
SCN4AIFGSFFTLNLFIGVIIDNFNQQKKKLGGKD>I<FMTEEQKKYY------NAM---KK-L----1326
SCN7AIFGVFLPLSMLITVIIDNFNKHKIKLGGSN>I<FITVKQRKQY------RRL---KK-L----1224
SCN8AIFGSFFTLNLFIGVIIDNFNQQKKKFGGQD>I<FMTEEQKKYY------NAM---KK-L----1495
SCN9AIFGSFFTLNLFIGVIIDNFNQQKKKLGGQD>I<FMTEEQKKYY------NAM---KK-L----1477
SCN10AIFGGFFTLNLFVGVIIDNFNQQKKKLGGQD>I<FMTEEQKKYY------NAM---KK-L----1449
SCN11AIFGSFFTLNLFIGVIIDNFNQQQKKLGGQD>I<FMTEEQKKYY------NAM---KK-L----1339
CACNA1AVVFPFFFVNIFVALIIITFQEQGDKM---->M<EEYSLEKNER------ACI---DFAI----1539
CACNA1BVVFPFFFVNIFVALIIITFQEQGDKV---->M<SECSLEKNER------ACI---DFAI----1445
CACNA1CIIIAFFMMNIFVGFVIVTFQEQGEQE---->Y<KNCELDKNQR------QCV---EYAL----1194
CACNA1DIIVAFFMMNIFVGFVIVTFQEQGEKE---->Y<KNCELDKNQR------QCV---EYAL----1200
CACNA1EVVFPFFFVNIFVALIIITFQEQGDKM---->M<EECSLEKNER------ACI---DFAI----1451
CACNA1FIIIAFFMMNIFVGFVIITFRAQGEQE---->Y<QNCELDKNQR------QCV---EYAL----1165
CACNA1GLIVAFFVLNMFVGVVVENFHKCRQHQEEEE>A<RRREEKRLRRLEKKRRNLML--DDVI----1576
CACNA1HLIVSFFVLNMFVGVVVENFHKCRQHQEAEE>A<RRREEK----------RLRRLERRRRSTFP1590
CACNA1ILIVSFFVLNMFVGVVVENFHKCRQHQEAEE>A<RRREEK----------RLRRLEKKRR----1462
CACNA1SILIAFFMMNIFVGFVIVTFQEQGETE---->Y<KNCELDKNQR------QCV---QYAL----1093
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.I1485Vc.4453A>G Inherited ArrhythmiaBrSSIFT:
Polyphen:
ReportsInherited ArrhythmiaBrS Enhanced Classification of Brugada Syndrome-Associated and Long-QT Syndrome-Associated Genetic Variants in the SCN5A-Encoded Na(v)1.5 Cardiac Sodium Channel. Circ Cardiovasc Genet. 2015 8(4):582-95. doi: 10.1161/CIRCGENETICS.114.000831. 25904541
p.Ile1485Valc.4453A>G UnknownSIFT:
Polyphen: