Paralogue Annotation for SCN5A residue 1287

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1287
Reference Amino Acid: V - Valine
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1287

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AT1300RDravet syndromeMedium7 24168886

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.



SCN5AYGF----KKYFTNAWCWLDFLIVDVSLVSL>V<AN-T----LGFAEMGPIKSLRTLRALRPLR1312
SCN1AYGY----QTYFTNAWCWLDFLIVDVSLVSL>T<AN-A----LGYSELGAIKSLRTLRALRPLR1325
SCN2AYGF----QVYFTNAWCWLDFLIVDVSLVSL>T<AN-A----LGYSELGAIKSLRTLRALRPLR1315
SCN3AYGF----QTYFTNAWCWLDFLIVDVSLVSL>V<AN-A----LGYSELGAIKSLRTLRALRPLR1313
SCN4AYGF----KVYFTNAWCWLDFLIVDVSIISL>V<AN-W----LGYSELGPIKSLRTLRALRPLR1138
SCN7AYGF----KAYFSNGWYRLDFVVVIVFCLSL>I<GK-T----RE--E---LKPLISMKFLRPLR1036
SCN8AYGF----VKFFTNAWCWLDFLIVAVSLVSL>I<AN-A----LGYSELGAIKSLRTLRALRPLR1305
SCN9AYGY----KTYFTNAWCWLDFLIVDVSLVTL>V<AN-T----LGYSDLGPIKSLRTLRALRPLR1288
SCN10AYGF----KKYFTNAWCWLDFLIVNISLISL>T<AK-I----LEYSEVAPIKALRTLRALRPLR1259
SCN11AFGF----GKYFTSAWCCLDFIIVIVSVTTL>I<---------N---LMELKSFRTLRALRPLR1156
CACNA1ALGLVLHQGAYFRDLWNILDFIVVSGALVAF>A<FTGN----SKGKDINTIKSLRVLRVLRPLK1355
CACNA1BLGLLLHPGAYFRDLWNILDFIVVSGALVAF>A<FS-G----SKGKDINTIKSLRVLRVLRPLK1261
CACNA1CYGAFLHKGSFCRNYFNILDLLVVSVSLISF>-<---G----IQSSAINVVKILRVLRVLRPLR1007
CACNA1DFGAFLHKGAFCRNYFNLLDMLVVGVSLVSF>-<---G----IQSSAISVVKILRVLRVLRPLR1013
CACNA1EQGLILQDGSYFRDLWNILDFVVVVGALVAF>A<LANA-LGTNKGRDIKTIKSLRVLRVLRPLK1267
CACNA1FFGAFLHRGSFCRSWFNMLDLLVVSVSLISF>-<---G----IHSSAISVVKILRVLRVLRPLR978
CACNA1GLGWCFGEQAYLRSSWNVLDGLLVLISVIDI>L<VS-MVSD-SGTKILGMLRVLRLLRTLRPLR1390
CACNA1HLGLLSGEHAYLQSSWNLLDGLLVLVSLVDI>V<VA-MASA-GGAKILGVLRVLRLLRTLRPLR1408
CACNA1ILGLYFGEQAYLRSSWNVLDGFLVFVSIIDI>V<VS-LASA-GGAKILGVLRVLRLLRTLRPLR1284
CACNA1SYGAFLHKGSFCRNYFNMLDLLVVAVSLISM>-<---G----LESSAISVVKILRVLRVLRPLR906
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1287 for SCN5A.