Paralogue Annotation for SCN5A residue 1487

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1487
Reference Amino Acid: M - Methionine
Protein Domain: Interdomain Linker III-IV


Paralogue Variants mapped to SCN5A residue 1487

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AM1500VHemiplegic migraine 3High5 26747084

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.



SCN5AGSFFTLNLFIGVIIDNFNQQKKKLGGQDIF>M<TEEQKKYY------NAM---KK-L----G-1502
SCN1AGSFFTLNLFIGVIIDNFNQQKKKFGGQDIF>M<TEEQKKYY------NAM---KK-L----G-1515
SCN2AGSFFTLNLFIGVIIDNFNQQKKKFGGQDIF>M<TEEQKKYY------NAM---KK-L----G-1505
SCN3AGSFFTLNLFIGVIIDNFNQQKKKFGGQDIF>M<TEEQKKYY------NAM---KK-L----G-1500
SCN4AGSFFTLNLFIGVIIDNFNQQKKKLGGKDIF>M<TEEQKKYY------NAM---KK-L----G-1327
SCN7AGVFLPLSMLITVIIDNFNKHKIKLGGSNIF>I<TVKQRKQY------RRL---KK-L----M-1225
SCN8AGSFFTLNLFIGVIIDNFNQQKKKFGGQDIF>M<TEEQKKYY------NAM---KK-L----G-1496
SCN9AGSFFTLNLFIGVIIDNFNQQKKKLGGQDIF>M<TEEQKKYY------NAM---KK-L----G-1478
SCN10AGGFFTLNLFVGVIIDNFNQQKKKLGGQDIF>M<TEEQKKYY------NAM---KK-L----G-1450
SCN11AGSFFTLNLFIGVIIDNFNQQQKKLGGQDIF>M<TEEQKKYY------NAM---KK-L----G-1340
CACNA1AFPFFFVNIFVALIIITFQEQGDKM----ME>E<YSLEKNER------ACI---DFAI------1539
CACNA1BFPFFFVNIFVALIIITFQEQGDKV----MS>E<CSLEKNER------ACI---DFAI------1445
CACNA1CIAFFMMNIFVGFVIVTFQEQGEQE----YK>N<CELDKNQR------QCV---EYAL------1194
CACNA1DVAFFMMNIFVGFVIVTFQEQGEKE----YK>N<CELDKNQR------QCV---EYAL------1200
CACNA1EFPFFFVNIFVALIIITFQEQGDKM----ME>E<CSLEKNER------ACI---DFAI------1451
CACNA1FIAFFMMNIFVGFVIITFRAQGEQE----YQ>N<CELDKNQR------QCV---EYAL------1165
CACNA1GVAFFVLNMFVGVVVENFHKCRQHQEEEEAR>R<REEKRLRRLEKKRRNLML--DDVI-----A1577
CACNA1HVSFFVLNMFVGVVVENFHKCRQHQEAEEAR>R<REEK----------RLRRLERRRRSTFPSP1592
CACNA1IVSFFVLNMFVGVVVENFHKCRQHQEAEEAR>R<REEK----------RLRRLEKKRR------1462
CACNA1SIAFFMMNIFVGFVIVTFQEQGETE----YK>N<CELDKNQR------QCV---QYAL------1093
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.M1487Lc.4459A>C Inherited ArrhythmiaLQTSrs199473258SIFT: deleterious
Polyphen: benign
ReportsInherited ArrhythmiaLQTS Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085