Paralogue Annotation for SCN5A residue 1242

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1242
Reference Amino Acid: A - Alanine
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1242

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AA1255DDravet syndromeHigh9 18930999
SCN1AA1255PDravet 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.



SCN5AIFMILLSSGALAFEDIYLEERKTIKVLLEY>A<DKMFTYVFVLEMLLKWVAYGF----KKYFT1268
SCN1AVFMILLSSGALAFEDIYIDQRKTIKTMLEY>A<DKVFTYIFILEMLLKWVAYGY----QTYFT1281
SCN2AVFMILLSSGALAFEDIYIEQRKTIKTMLEY>A<DKVFTYIFILEMLLKWVAYGF----QVYFT1271
SCN3AVFMILLSSGALAFEDIYIEQRKTIKTMLEY>A<DKVFTYIFILEMLLKWVAYGF----QTYFT1269
SCN4AVFMILLSSGALAFEDIYIEQRRVIRTILEY>A<DKVFTYIFIMEMLLKWVAYGF----KVYFT1094
SCN7AGLVTLLSTGTLAFEDIYMDQRKTIKILLEY>A<DMIFTYIFILEMLLKWMAYGF----KAYFS997
SCN8AIFMILLSSGALAFEDIYIEQRKTIRTILEY>A<DKVFTYIFILEMLLKWTAYGF----VKFFT1261
SCN9AVLMILLSSGALAFEDIYIERKKTIKIILEY>A<DKIFTYIFILEMLLKWIAYGY----KTYFT1244
SCN10AIFMILLSSGSLAFEDYYLDQKPTVKALLEY>T<DRVFTFIFVFEMLLKWVAYGF----KKYFT1215
SCN11AIFVILLSSGALIFEDVHLENQPKIQELLNC>T<DIIFTHIFILEMVLKWVAFGF----GKYFT1119
CACNA1ALMVIAMSSIALAAEDPV-QPNAPRNNVLRY>F<DYVFTGVFTFEMVIKMIDLGLVLHQGAYFR1310
CACNA1BLVVIALSSIALAAEDPV-RTDSPRNNALKY>L<DYIFTGVFTFEMVIKMIDLGLLLHPGAYFR1217
CACNA1CLFFILLSSISLAAEDPV-QHTSFRNHILFY>F<DIVFTTIFTIEIALKMTAYGAFLHKGSFCR966
CACNA1DLVFIMLSSAALAAEDPI-RSHSFRNTILGY>F<DYAFTAIFTVEILLKMTTFGAFLHKGAFCR972
CACNA1ELLVIAASSIALAAEDPV-LTNSERNKVLRY>F<DYVFTGVFTFEMVIKMIDQGLILQDGSYFR1219
CACNA1FLVFIILSSVSLAAEDPI-RAHSFRNHILGY>F<DYAFTSIFTVEILLKMTVFGAFLHRGSFCR937
CACNA1GLVIIFLNCITIAMERPKIDPHSAERIFLTL>S<NYIFTAVFLAEMTVKVVALGWCFGEQAYLR1343
CACNA1HLVFIFLNCVTIALERPDIDPGSTERVFLSV>S<NYIFTAIFVAEMMVKVVALGLLSGEHAYLQ1361
CACNA1ILAFIFLNCITIALERPQIEAGSTERIFLTV>S<NYIFTAIFVGEMTLKVVSLGLYFGEQAYLR1237
CACNA1SLLFILLSSAALAAEDPI-RADSMRNQILKH>F<DIGFTSVFTVEIVLKMTTYGAFLHKGSFCR865
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1242 for SCN5A.