Paralogue Annotation for SCN5A residue 1260

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1260
Reference Amino Acid: A - Alanine
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1260

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN9AA1236ECongenital indifference to painHigh9 25995458, 25995458
SCN1AA1273VDravet 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.



SCN5AEERKTIKVLLEYADKMFTYVFVLEMLLKWV>A<YGF----KKYFTNAWCWLDFLIVDVSLVSL1286
SCN1ADQRKTIKTMLEYADKVFTYIFILEMLLKWV>A<YGY----QTYFTNAWCWLDFLIVDVSLVSL1299
SCN2AEQRKTIKTMLEYADKVFTYIFILEMLLKWV>A<YGF----QVYFTNAWCWLDFLIVDVSLVSL1289
SCN3AEQRKTIKTMLEYADKVFTYIFILEMLLKWV>A<YGF----QTYFTNAWCWLDFLIVDVSLVSL1287
SCN4AEQRRVIRTILEYADKVFTYIFIMEMLLKWV>A<YGF----KVYFTNAWCWLDFLIVDVSIISL1112
SCN7ADQRKTIKILLEYADMIFTYIFILEMLLKWM>A<YGF----KAYFSNGWYRLDFVVVIVFCLSL1015
SCN8AEQRKTIRTILEYADKVFTYIFILEMLLKWT>A<YGF----VKFFTNAWCWLDFLIVAVSLVSL1279
SCN9AERKKTIKIILEYADKIFTYIFILEMLLKWI>A<YGY----KTYFTNAWCWLDFLIVDVSLVTL1262
SCN10ADQKPTVKALLEYTDRVFTFIFVFEMLLKWV>A<YGF----KKYFTNAWCWLDFLIVNISLISL1233
SCN11AENQPKIQELLNCTDIIFTHIFILEMVLKWV>A<FGF----GKYFTSAWCCLDFIIVIVSVTTL1137
CACNA1AQPNAPRNNVLRYFDYVFTGVFTFEMVIKMI>D<LGLVLHQGAYFRDLWNILDFIVVSGALVAF1328
CACNA1BRTDSPRNNALKYLDYIFTGVFTFEMVIKMI>D<LGLLLHPGAYFRDLWNILDFIVVSGALVAF1235
CACNA1CQHTSFRNHILFYFDIVFTTIFTIEIALKMT>A<YGAFLHKGSFCRNYFNILDLLVVSVSLISF984
CACNA1DRSHSFRNTILGYFDYAFTAIFTVEILLKMT>T<FGAFLHKGAFCRNYFNLLDMLVVGVSLVSF990
CACNA1ELTNSERNKVLRYFDYVFTGVFTFEMVIKMI>D<QGLILQDGSYFRDLWNILDFVVVVGALVAF1237
CACNA1FRAHSFRNHILGYFDYAFTSIFTVEILLKMT>V<FGAFLHRGSFCRSWFNMLDLLVVSVSLISF955
CACNA1GDPHSAERIFLTLSNYIFTAVFLAEMTVKVV>A<LGWCFGEQAYLRSSWNVLDGLLVLISVIDI1361
CACNA1HDPGSTERVFLSVSNYIFTAIFVAEMMVKVV>A<LGLLSGEHAYLQSSWNLLDGLLVLVSLVDI1379
CACNA1IEAGSTERIFLTVSNYIFTAIFVGEMTLKVV>S<LGLYFGEQAYLRSSWNVLDGFLVFVSIIDI1255
CACNA1SRADSMRNQILKHFDIGFTSVFTVEIVLKMT>T<YGAFLHKGSFCRNYFNMLDLLVVAVSLISM883
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.A1260Dc.3779C>A Putative BenignSIFT: deleterious
Polyphen: probably damaging