Paralogue Annotation for SCN5A residue 1247

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1247
Reference Amino Acid: T - Threonine
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1247

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AT1260PDravet syndromeHigh9 20431604

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.



SCN5ALSSGALAFEDIYLEERKTIKVLLEYADKMF>T<YVFVLEMLLKWVAYGF----KKYFTNAWCW1273
SCN1ALSSGALAFEDIYIDQRKTIKTMLEYADKVF>T<YIFILEMLLKWVAYGY----QTYFTNAWCW1286
SCN2ALSSGALAFEDIYIEQRKTIKTMLEYADKVF>T<YIFILEMLLKWVAYGF----QVYFTNAWCW1276
SCN3ALSSGALAFEDIYIEQRKTIKTMLEYADKVF>T<YIFILEMLLKWVAYGF----QTYFTNAWCW1274
SCN4ALSSGALAFEDIYIEQRRVIRTILEYADKVF>T<YIFIMEMLLKWVAYGF----KVYFTNAWCW1099
SCN7ALSTGTLAFEDIYMDQRKTIKILLEYADMIF>T<YIFILEMLLKWMAYGF----KAYFSNGWYR1002
SCN8ALSSGALAFEDIYIEQRKTIRTILEYADKVF>T<YIFILEMLLKWTAYGF----VKFFTNAWCW1266
SCN9ALSSGALAFEDIYIERKKTIKIILEYADKIF>T<YIFILEMLLKWIAYGY----KTYFTNAWCW1249
SCN10ALSSGSLAFEDYYLDQKPTVKALLEYTDRVF>T<FIFVFEMLLKWVAYGF----KKYFTNAWCW1220
SCN11ALSSGALIFEDVHLENQPKIQELLNCTDIIF>T<HIFILEMVLKWVAFGF----GKYFTSAWCC1124
CACNA1AMSSIALAAEDPV-QPNAPRNNVLRYFDYVF>T<GVFTFEMVIKMIDLGLVLHQGAYFRDLWNI1315
CACNA1BLSSIALAAEDPV-RTDSPRNNALKYLDYIF>T<GVFTFEMVIKMIDLGLLLHPGAYFRDLWNI1222
CACNA1CLSSISLAAEDPV-QHTSFRNHILFYFDIVF>T<TIFTIEIALKMTAYGAFLHKGSFCRNYFNI971
CACNA1DLSSAALAAEDPI-RSHSFRNTILGYFDYAF>T<AIFTVEILLKMTTFGAFLHKGAFCRNYFNL977
CACNA1EASSIALAAEDPV-LTNSERNKVLRYFDYVF>T<GVFTFEMVIKMIDQGLILQDGSYFRDLWNI1224
CACNA1FLSSVSLAAEDPI-RAHSFRNHILGYFDYAF>T<SIFTVEILLKMTVFGAFLHRGSFCRSWFNM942
CACNA1GLNCITIAMERPKIDPHSAERIFLTLSNYIF>T<AVFLAEMTVKVVALGWCFGEQAYLRSSWNV1348
CACNA1HLNCVTIALERPDIDPGSTERVFLSVSNYIF>T<AIFVAEMMVKVVALGLLSGEHAYLQSSWNL1366
CACNA1ILNCITIALERPQIEAGSTERIFLTVSNYIF>T<AIFVGEMTLKVVSLGLYFGEQAYLRSSWNV1242
CACNA1SLSSAALAAEDPI-RADSMRNQILKHFDIGF>T<SVFTVEIVLKMTTYGAFLHKGSFCRNYFNM870
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.T1247Ic.3740C>T Putative BenignSIFT:
Polyphen: