Paralogue Annotation for SCN5A residue 1351

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1351
Reference Amino Acid: M - Methionine
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1351

No paralogue variants have been mapped to residue 1351 for SCN5A.



SCN5ARVVVNALVGAIPSIMNVLLVCLIFWLIFSI>M<GVNLFAGKFGRCINQTEGDL-P-LNYTIVN1379
SCN1ARVVVNALLGAIPSIMNVLLVCLIFWLIFSI>M<GVNLFAGKFYHCINTTTGDR---FDIEDVN1391
SCN2ARVVVNALLGAIPSIMNVLLVCLIFWLIFSI>M<GVNLFAGKFYHCINYTTGEM---FDVSVVN1381
SCN3ARVVVNALVGAIPSIMNVLLVCLIFWLIFSI>M<GVNLFAGKFYHCVNMTTGNM---FDISDVN1379
SCN4ARVVVNALLGAIPSIMNVLLVCLIFWLIFSI>M<GVNLFAGKFYYCINTTTSER---FDISEVN1204
SCN7AKVVVRALIKTTLPTLNVFLVCLMIWLIFSI>M<GVDLFAGRFYECIDPTSGER---FPSSEVM1102
SCN8ARVVVNALVGAIPSIMNVLLVCLIFWLIFSI>M<GVNLFAGKYHYCFNETSEIR---FEIEDVN1371
SCN9ARVVVNALIGAIPSIMNVLLVCLIFWLIFSI>M<GVNLFAGKFYECINTTDGSR---FPASQVP1354
SCN10ARVVVDALVGAIPSIMNVLLVCLIFWLIFSI>M<GVNLFAGKFWRCINYTDGEF-SLVPLSIVN1327
SCN11AKVVVNALIGAIPAILNVLLVCLIFWLVFCI>L<GVYFFSGKFGKCINGTDSVI----NYTIIT1221
CACNA1AKAVFDCVVNSLKNVFNILIVYMLFMFIFAV>V<AVQLFKGKFFHCTDESKEFEKDCRGKYLLY1424
CACNA1BKAVFDCVVNSLKNVLNILIVYMLFMFIFAV>I<AVQLFKGKFFYCTDESKELERDCRGQYLDY1330
CACNA1CKHVVQCVFVAIRTIGNIVIVTTLLQFMFAC>I<GVQLFKGKLYTCSDSSKQTEAECKGNYITY1076
CACNA1DKHVVQCVFVAIRTIGNIMIVTTLLQFMFAC>I<GVQLFKGKFYRCTDEAKSNPEECRGLFILY1082
CACNA1EKAVFDCVVTSLKNVFNILIVYKLFMFIFAV>I<AVQLFKGKFFYCTDSSKDTEKECIGNYVDH1336
CACNA1FKHVVQCVFVAIRTIGNIMIVTTLLQFMFAC>I<GVQLFKGKFYTCTDEAKHTPQECKGSFLVY1047
CACNA1GKLVVETLMSSLKPIGNIVVICCAFFIIFGI>L<GVQLFKGKFFVCQGED---------TRNIT1450
CACNA1HKLVVETLISSLRPIGNIVLICCAFFIIFGI>L<GVQLFKGKFYYCEGPD---------TRNIS1468
CACNA1IKLVVETLISSLKPIGNIVLICCAFFIIFGI>L<GVQLFKGKFYHCLGVD---------TRNIT1344
CACNA1SKHVVQCMFVAISTIGNIVLVTTLLQFMFAC>I<GVQLFKGKFFRCTDLSKMTEEECRGYYYVY975
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.M1351Rc.4052T>G Inherited ArrhythmiaBrSrs199473232SIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaBrS An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm. 2010 7(1):33-46. 20129283