Paralogue Annotation for SCN5A residue 1246

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1246
Reference Amino Acid: F - Phenylalanine
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1246

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AF1259CDravet syndromeHigh9 23398550

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.



SCN5ALLSSGALAFEDIYLEERKTIKVLLEYADKM>F<TYVFVLEMLLKWVAYGF----KKYFTNAWC1272
SCN1ALLSSGALAFEDIYIDQRKTIKTMLEYADKV>F<TYIFILEMLLKWVAYGY----QTYFTNAWC1285
SCN2ALLSSGALAFEDIYIEQRKTIKTMLEYADKV>F<TYIFILEMLLKWVAYGF----QVYFTNAWC1275
SCN3ALLSSGALAFEDIYIEQRKTIKTMLEYADKV>F<TYIFILEMLLKWVAYGF----QTYFTNAWC1273
SCN4ALLSSGALAFEDIYIEQRRVIRTILEYADKV>F<TYIFIMEMLLKWVAYGF----KVYFTNAWC1098
SCN7ALLSTGTLAFEDIYMDQRKTIKILLEYADMI>F<TYIFILEMLLKWMAYGF----KAYFSNGWY1001
SCN8ALLSSGALAFEDIYIEQRKTIRTILEYADKV>F<TYIFILEMLLKWTAYGF----VKFFTNAWC1265
SCN9ALLSSGALAFEDIYIERKKTIKIILEYADKI>F<TYIFILEMLLKWIAYGY----KTYFTNAWC1248
SCN10ALLSSGSLAFEDYYLDQKPTVKALLEYTDRV>F<TFIFVFEMLLKWVAYGF----KKYFTNAWC1219
SCN11ALLSSGALIFEDVHLENQPKIQELLNCTDII>F<THIFILEMVLKWVAFGF----GKYFTSAWC1123
CACNA1AAMSSIALAAEDPV-QPNAPRNNVLRYFDYV>F<TGVFTFEMVIKMIDLGLVLHQGAYFRDLWN1314
CACNA1BALSSIALAAEDPV-RTDSPRNNALKYLDYI>F<TGVFTFEMVIKMIDLGLLLHPGAYFRDLWN1221
CACNA1CLLSSISLAAEDPV-QHTSFRNHILFYFDIV>F<TTIFTIEIALKMTAYGAFLHKGSFCRNYFN970
CACNA1DMLSSAALAAEDPI-RSHSFRNTILGYFDYA>F<TAIFTVEILLKMTTFGAFLHKGAFCRNYFN976
CACNA1EAASSIALAAEDPV-LTNSERNKVLRYFDYV>F<TGVFTFEMVIKMIDQGLILQDGSYFRDLWN1223
CACNA1FILSSVSLAAEDPI-RAHSFRNHILGYFDYA>F<TSIFTVEILLKMTVFGAFLHRGSFCRSWFN941
CACNA1GFLNCITIAMERPKIDPHSAERIFLTLSNYI>F<TAVFLAEMTVKVVALGWCFGEQAYLRSSWN1347
CACNA1HFLNCVTIALERPDIDPGSTERVFLSVSNYI>F<TAIFVAEMMVKVVALGLLSGEHAYLQSSWN1365
CACNA1IFLNCITIALERPQIEAGSTERIFLTVSNYI>F<TAIFVGEMTLKVVSLGLYFGEQAYLRSSWN1241
CACNA1SLLSSAALAAEDPI-RADSMRNQILKHFDIG>F<TSVFTVEIVLKMTTYGAFLHKGSFCRNYFN869
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1246 for SCN5A.