Paralogue Annotation for SCN5A residue 1261

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1261
Reference Amino Acid: Y - Tyrosine
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1261

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AY1274NGeneralized epilepsy with febrile seizures plusHigh9 20682179
SCN1AY1274SDravet syndromeHigh9 26096185

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.



SCN5AERKTIKVLLEYADKMFTYVFVLEMLLKWVA>Y<GF----KKYFTNAWCWLDFLIVDVSLVSLV1287
SCN1AQRKTIKTMLEYADKVFTYIFILEMLLKWVA>Y<GY----QTYFTNAWCWLDFLIVDVSLVSLT1300
SCN2AQRKTIKTMLEYADKVFTYIFILEMLLKWVA>Y<GF----QVYFTNAWCWLDFLIVDVSLVSLT1290
SCN3AQRKTIKTMLEYADKVFTYIFILEMLLKWVA>Y<GF----QTYFTNAWCWLDFLIVDVSLVSLV1288
SCN4AQRRVIRTILEYADKVFTYIFIMEMLLKWVA>Y<GF----KVYFTNAWCWLDFLIVDVSIISLV1113
SCN7AQRKTIKILLEYADMIFTYIFILEMLLKWMA>Y<GF----KAYFSNGWYRLDFVVVIVFCLSLI1016
SCN8AQRKTIRTILEYADKVFTYIFILEMLLKWTA>Y<GF----VKFFTNAWCWLDFLIVAVSLVSLI1280
SCN9ARKKTIKIILEYADKIFTYIFILEMLLKWIA>Y<GY----KTYFTNAWCWLDFLIVDVSLVTLV1263
SCN10AQKPTVKALLEYTDRVFTFIFVFEMLLKWVA>Y<GF----KKYFTNAWCWLDFLIVNISLISLT1234
SCN11ANQPKIQELLNCTDIIFTHIFILEMVLKWVA>F<GF----GKYFTSAWCCLDFIIVIVSVTTLI1138
CACNA1APNAPRNNVLRYFDYVFTGVFTFEMVIKMID>L<GLVLHQGAYFRDLWNILDFIVVSGALVAFA1329
CACNA1BTDSPRNNALKYLDYIFTGVFTFEMVIKMID>L<GLLLHPGAYFRDLWNILDFIVVSGALVAFA1236
CACNA1CHTSFRNHILFYFDIVFTTIFTIEIALKMTA>Y<GAFLHKGSFCRNYFNILDLLVVSVSLISF-984
CACNA1DSHSFRNTILGYFDYAFTAIFTVEILLKMTT>F<GAFLHKGAFCRNYFNLLDMLVVGVSLVSF-990
CACNA1ETNSERNKVLRYFDYVFTGVFTFEMVIKMID>Q<GLILQDGSYFRDLWNILDFVVVVGALVAFA1238
CACNA1FAHSFRNHILGYFDYAFTSIFTVEILLKMTV>F<GAFLHRGSFCRSWFNMLDLLVVSVSLISF-955
CACNA1GPHSAERIFLTLSNYIFTAVFLAEMTVKVVA>L<GWCFGEQAYLRSSWNVLDGLLVLISVIDIL1362
CACNA1HPGSTERVFLSVSNYIFTAIFVAEMMVKVVA>L<GLLSGEHAYLQSSWNLLDGLLVLVSLVDIV1380
CACNA1IAGSTERIFLTVSNYIFTAIFVGEMTLKVVS>L<GLYFGEQAYLRSSWNVLDGFLVFVSIIDIV1256
CACNA1SADSMRNQILKHFDIGFTSVFTVEIVLKMTT>Y<GAFLHKGSFCRNYFNMLDLLVVAVSLISM-883
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1261 for SCN5A.