Paralogue Annotation for SCN5A residue 138

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 138
Reference Amino Acid: M - Methionine
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 138

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN2AM136IEpileptic encephalopathy, early onsetHigh9 23708187
SCN10AT137MBrugada syndromeMedium9 24998131

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.



SCN5ATNALYVLSPFHPIRRAAVKILVHSLFNMLI>M<CTILTNCVFMAQH------D-PPPWT--KY159
SCN1ATSALYILTPFNPLRKIAIKILVHSLFSMLI>M<CTILTNCVFMTMS------N-PPDWT--KN156
SCN2ATPALYILTPFNPIRKLAIKILVHSLFNMLI>M<CTILTNCVFMTMS------N-PPDWT--KN157
SCN3ATSALYILTPLNPVRKIAIKILVHSLFSMLI>M<CTILTNCVFMTLS------N-PPDWT--KN156
SCN4ATPALYLLSPFSVVRRGAIKVLIHALFSMFI>M<ITILTNCVFMTMS------D-PPPWS--KN159
SCN7AASILCTLSPFNCIRRTTIKVLVHPFFQLFI>L<ISVLIDCVFMSLT------N-LPKWR--PV146
SCN8ATPALYILSPFNLIRRIAIKILIHSVFSMII>M<CTILTNCVFMTFS------N-PPDWS--KN160
SCN9ATPALYMLSPFSPLRRISIKILVHSLFSMLI>M<CTILTNCIFMTMN------N-PPDWT--KN154
SCN10ATRALWLFSPFNLIRRTAIKVSVHSWFSLFI>T<VTILVNCVCMTRT------D-LPE-----K155
SCN11AKHALFIFGPFNSIRSLAIRVSVHSLFSMFI>I<GTVIINCVFMATGPA-K--NSNSNNT--DI161
CACNA1ANRSLFLFSEDNVVRKYAKKITEWPPFEYMI>L<ATIIANCIVLALEQHLPDDDKTPMSERLDD135
CACNA1BNRSLFVFSEDNVVRKYAKRITEWPPFEYMI>L<ATIIANCIVLALEQHLPDGDKTPMSERLDD132
CACNA1CPRALLCLTLKNPIRRACISIVEWKPFEIII>L<LTIFANCVALAIYIPFPEDDSNATNSNLER161
CACNA1DARALFCLSLNNPIRRACISIVEWKPFDIFI>L<LAIFANCVALAIYIPFPEDDSNSTNHNLEK163
CACNA1ENRSLFIFGEDNIVRKYAKKLIDWPPFEYMI>L<ATIIANCIVLALEQHLPEDDKTPMSRRLEK126
CACNA1FPRALFCLTLANPLRRSCISIVEWKPFDILI>L<LTIFANCVALGVYIPFPEDDSNTANHNLEQ129
CACNA1GPVVFFYLSQDSRPRSWCLRTVCNPWFERIS>M<LVILLNCVTLGMFRPCEDIACDSQRCRILQ118
CACNA1HATVFFCLGQTTRPRSWCLRLVCNPWFEHVS>M<LVIMLNCVTLGMFRPCEDVECGSERCNILE137
CACNA1IPIAFFCLRQTTSPRNWCIKMVCNPWFECVS>M<LVILLNCVTLGMYQPCDDMDCLSDRCKILQ116
CACNA1SPRALFCLTLENPLRKACISIVEWKPFETII>L<LTIFANCVALAVYLPMPEDDNNSLNLGLEK88
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.M138Ic.414G>A Inherited ArrhythmiaAFSIFT: tolerated
Polyphen: benign
ReportsInherited ArrhythmiaAF Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation. Circulation. 2008 117(15):1927-35. 18378609
Unknown Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 25(3):305-15. doi: 10.1101/gr.183483.114. 25637381
p.Met138Thrc.413T>C UnknownSIFT:
Polyphen: