Paralogue Annotation for SCN5A residue 1371

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1371
Reference Amino Acid: L - Leucine
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1371

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN3AM1372VEpilepsy, focalMedium6 24157691

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.



SCN5ACLIFWLIFSIMGVNLFAGKFGRCINQTEGD>L<-P-LNYTIVNNKSQCESLNLTGE--LYWTK1397
SCN1ACLIFWLIFSIMGVNLFAGKFYHCINTTTGD>R<---FDIEDVNNHTDCLKLIERNET-ARWKN1410
SCN2ACLIFWLIFSIMGVNLFAGKFYHCINYTTGE>M<---FDVSVVNNYSECKALIESNQT-ARWKN1400
SCN3ACLIFWLIFSIMGVNLFAGKFYHCVNMTTGN>M<---FDISDVNNLSDCQALGK--Q--ARWKN1395
SCN4ACLIFWLIFSIMGVNLFAGKFYYCINTTTSE>R<---FDISEVNNKSECESLMHTGQ--VRWLN1222
SCN7ACLMIWLIFSIMGVDLFAGRFYECIDPTSGE>R<---FPSSEVMNKSRCESLLFNES--MLWEN1120
SCN8ACLIFWLIFSIMGVNLFAGKYHYCFNETSEI>R<---FEIEDVNNKTECEKLMEGNNTEIRWKN1391
SCN9ACLIFWLIFSIMGVNLFAGKFYECINTTDGS>R<---FPASQVPNRSECFALMNVSQN-VRWKN1373
SCN10ACLIFWLIFSIMGVNLFAGKFWRCINYTDGE>F<-SLVPLSIVNNKSDCKIQNSTGS--FFWVN1345
SCN11ACLIFWLVFCILGVYFFSGKFGKCINGTDSV>I<----NYTIITNKSQCESGN------FSWIN1235
CACNA1AYMLFMFIFAVVAVQLFKGKFFHCTDESKEF>E<KDCRGKYLLYEKNEVK----AR--DREWKK1438
CACNA1BYMLFMFIFAVIAVQLFKGKFFYCTDESKEL>E<RDCRGQYLDYEKEEVE----AQ--PRQWKK1344
CACNA1CTTLLQFMFACIGVQLFKGKLYTCSDSSKQT>E<AECKGNYITYKDGEVDHP-IIQ--PRSWEN1093
CACNA1DTTLLQFMFACIGVQLFKGKFYRCTDEAKSN>P<EECRGLFILYKDGDVDSP-VVR--ERIWQN1099
CACNA1EYKLFMFIFAVIAVQLFKGKFFYCTDSSKDT>E<KECIGNYVDHEKNKME----VK--GREWKR1350
CACNA1FTTLLQFMFACIGVQLFKGKFYTCTDEAKHT>P<QECKGSFLVYPDGDVSRP-LVR--ERLWVN1064
CACNA1GCCAFFIIFGILGVQLFKGKFFVCQGED--->-<-----TRNITNKSDCA----EA--SYRWVR1464
CACNA1HCCAFFIIFGILGVQLFKGKFYYCEGPD--->-<-----TRNISTKAQCR----AA--HYRWVR1482
CACNA1ICCAFFIIFGILGVQLFKGKFYHCLGVD--->-<-----TRNITNRSDCM----AA--NYRWVH1358
CACNA1STTLLQFMFACIGVQLFKGKFFRCTDLSKMT>E<EECRGYYYVYKDGDPMQI-ELR--HREWVH992
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1371 for SCN5A.