Paralogue Annotation for SCN5A residue 1342

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1342
Reference Amino Acid: L - Leucine
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1342

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AL1355PMyoclonic epilepsy of infancyHigh9 14738421, 23195492

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.



SCN5ARALSRFEGMRVVVNALVGAIPSIMNVLLVC>L<IFWLIFSIMGVNLFAGKFGRCINQTEGDL-1371
SCN1ARALSRFEGMRVVVNALLGAIPSIMNVLLVC>L<IFWLIFSIMGVNLFAGKFYHCINTTTGDR-1384
SCN2ARALSRFEGMRVVVNALLGAIPSIMNVLLVC>L<IFWLIFSIMGVNLFAGKFYHCINYTTGEM-1374
SCN3ARALSRFEGMRVVVNALVGAIPSIMNVLLVC>L<IFWLIFSIMGVNLFAGKFYHCVNMTTGNM-1372
SCN4ARALSRFEGMRVVVNALLGAIPSIMNVLLVC>L<IFWLIFSIMGVNLFAGKFYYCINTTTSER-1197
SCN7ARVLSQFERMKVVVRALIKTTLPTLNVFLVC>L<MIWLIFSIMGVDLFAGRFYECIDPTSGER-1095
SCN8ARALSRFEGMRVVVNALVGAIPSIMNVLLVC>L<IFWLIFSIMGVNLFAGKYHYCFNETSEIR-1364
SCN9ARALSRFEGMRVVVNALIGAIPSIMNVLLVC>L<IFWLIFSIMGVNLFAGKFYECINTTDGSR-1347
SCN10ARALSRFEGMRVVVDALVGAIPSIMNVLLVC>L<IFWLIFSIMGVNLFAGKFWRCINYTDGEF-1318
SCN11ARALSQFEGMKVVVNALIGAIPAILNVLLVC>L<IFWLVFCILGVYFFSGKFGKCINGTDSVI-1215
CACNA1AKTIKRLPKLKAVFDCVVNSLKNVFNILIVY>M<LFMFIFAVVAVQLFKGKFFHCTDESKEFEK1415
CACNA1BKTIKRLPKLKAVFDCVVNSLKNVLNILIVY>M<LFMFIFAVIAVQLFKGKFFYCTDESKELER1321
CACNA1CRAINRAKGLKHVVQCVFVAIRTIGNIVIVT>T<LLQFMFACIGVQLFKGKLYTCSDSSKQTEA1067
CACNA1DRAINRAKGLKHVVQCVFVAIRTIGNIMIVT>T<LLQFMFACIGVQLFKGKFYRCTDEAKSNPE1073
CACNA1EKTIKRLPKLKAVFDCVVTSLKNVFNILIVY>K<LFMFIFAVIAVQLFKGKFFYCTDSSKDTEK1327
CACNA1FRAINRAKGLKHVVQCVFVAIRTIGNIMIVT>T<LLQFMFACIGVQLFKGKFYTCTDEAKHTPQ1038
CACNA1GRVISRAQGLKLVVETLMSSLKPIGNIVVIC>C<AFFIIFGILGVQLFKGKFFVCQGED-----1445
CACNA1HRVISRAPGLKLVVETLISSLRPIGNIVLIC>C<AFFIIFGILGVQLFKGKFYYCEGPD-----1463
CACNA1IRVISRAPGLKLVVETLISSLKPIGNIVLIC>C<AFFIIFGILGVQLFKGKFYHCLGVD-----1339
CACNA1SRAINRAKGLKHVVQCMFVAISTIGNIVLVT>T<LLQFMFACIGVQLFKGKFFRCTDLSKMTEE966
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L1342Fc.4024C>T CardiomyopathynsCMSIFT:
Polyphen:
ReportsCardiomyopathynsCM Next generation sequencing challenges in the analysis of cardiac sudden death due to arrhythmogenic disorders. Electrophoresis. 2014 35(21-22):3111-6. doi: 10.1002/elps.201400148. 24981977