Paralogue Annotation for SCN5A residue 1226

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1226
Reference Amino Acid: D - Aspartate
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1226

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AD1239YDravet syndromeHigh9 18930999
SCN1AD1239GDravet syndromeHigh9 18930999

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.



SCN5AKTCYHIVEHSWFETFIIFMILLSSGALAFE>D<IYLEERKTIKVLLEYADKMFTYVFVLEMLL1256
SCN1ARTCFRIVEHNWFETFIVFMILLSSGALAFE>D<IYIDQRKTIKTMLEYADKVFTYIFILEMLL1269
SCN2AKTCYKIVEHNWFETFIVFMILLSSGALAFE>D<IYIEQRKTIKTMLEYADKVFTYIFILEMLL1259
SCN3AKTCYSIVEHNWFETFIVFMILLSSGALAFE>D<IYIEQRKTIKTMLEYADKVFTYIFILEMLL1257
SCN4ARACFKIVEHNWFETFIVFMILLSSGALAFE>D<IYIEQRRVIRTILEYADKVFTYIFIMEMLL1082
SCN7AKTCCKIVENNWFKCFIGLVTLLSTGTLAFE>D<IYMDQRKTIKILLEYADMIFTYIFILEMLL985
SCN8AKTCFLIVEHNWFETFIIFMILLSSGALAFE>D<IYIEQRKTIRTILEYADKVFTYIFILEMLL1249
SCN9AKTCYKIVEHSWFESFIVLMILLSSGALAFE>D<IYIERKKTIKIILEYADKIFTYIFILEMLL1232
SCN10AKTCYRIVEHSWFESFIIFMILLSSGSLAFE>D<YYLDQKPTVKALLEYTDRVFTFIFVFEMLL1203
SCN11AKTCYQIVKHSWFESFIIFVILLSSGALIFE>D<VHLENQPKIQELLNCTDIIFTHIFILEMVL1107
CACNA1ARLCHYILNLRYFEMCILMVIAMSSIALAAE>D<PV-QPNAPRNNVLRYFDYVFTGVFTFEMVI1294
CACNA1BRFCHYIVTMRYFEVVILVVIALSSIALAAE>D<PV-RTDSPRNNALKYLDYIFTGVFTFEMVI1201
CACNA1CLQCHRIVNDTIFTNLILFFILLSSISLAAE>D<PV-QHTSFRNHILFYFDIVFTTIFTIEIAL950
CACNA1DVGCHKLINHHIFTNLILVFIMLSSAALAAE>D<PI-RSHSFRNTILGYFDYAFTAIFTVEILL956
CACNA1ERACHYIVNLRYFEMCILLVIAASSIALAAE>D<PV-LTNSERNKVLRYFDYVFTGVFTFEMVI1203
CACNA1FKGCHTLIHHHVFTNLILVFIILSSVSLAAE>D<PI-RAHSFRNHILGYFDYAFTSIFTVEILL921
CACNA1GLLCHRIITHKMFDHVVLVIIFLNCITIAME>R<PKIDPHSAERIFLTLSNYIFTAVFLAEMTV1327
CACNA1HVSCQKVITHKMFDHVVLVFIFLNCVTIALE>R<PDIDPGSTERVFLSVSNYIFTAIFVAEMMV1345
CACNA1IVLCQTIIAHKLFDYVVLAFIFLNCITIALE>R<PQIEAGSTERIFLTVSNYIFTAIFVGEMTL1221
CACNA1SVLCHRIVNATWFTNFILLFILLSSAALAAE>D<PI-RADSMRNQILKHFDIGFTSVFTVEIVL849
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1226 for SCN5A.