Paralogue Annotation for SCN5A residue 1274

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1274
Reference Amino Acid: L - Leucine
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1274

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AL1287PDravet 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.



SCN5AYVFVLEMLLKWVAYGF----KKYFTNAWCW>L<DFLIVDVSLVSLVAN-T----LGFAEMGPI1299
SCN1AYIFILEMLLKWVAYGY----QTYFTNAWCW>L<DFLIVDVSLVSLTAN-A----LGYSELGAI1312
SCN2AYIFILEMLLKWVAYGF----QVYFTNAWCW>L<DFLIVDVSLVSLTAN-A----LGYSELGAI1302
SCN3AYIFILEMLLKWVAYGF----QTYFTNAWCW>L<DFLIVDVSLVSLVAN-A----LGYSELGAI1300
SCN4AYIFIMEMLLKWVAYGF----KVYFTNAWCW>L<DFLIVDVSIISLVAN-W----LGYSELGPI1125
SCN7AYIFILEMLLKWMAYGF----KAYFSNGWYR>L<DFVVVIVFCLSLIGK-T----RE--E---L1023
SCN8AYIFILEMLLKWTAYGF----VKFFTNAWCW>L<DFLIVAVSLVSLIAN-A----LGYSELGAI1292
SCN9AYIFILEMLLKWIAYGY----KTYFTNAWCW>L<DFLIVDVSLVTLVAN-T----LGYSDLGPI1275
SCN10AFIFVFEMLLKWVAYGF----KKYFTNAWCW>L<DFLIVNISLISLTAK-I----LEYSEVAPI1246
SCN11AHIFILEMVLKWVAFGF----GKYFTSAWCC>L<DFIIVIVSVTTLI---------N---LMEL1143
CACNA1AGVFTFEMVIKMIDLGLVLHQGAYFRDLWNI>L<DFIVVSGALVAFAFTGN----SKGKDINTI1342
CACNA1BGVFTFEMVIKMIDLGLLLHPGAYFRDLWNI>L<DFIVVSGALVAFAFS-G----SKGKDINTI1248
CACNA1CTIFTIEIALKMTAYGAFLHKGSFCRNYFNI>L<DLLVVSVSLISF----G----IQSSAINVV994
CACNA1DAIFTVEILLKMTTFGAFLHKGAFCRNYFNL>L<DMLVVGVSLVSF----G----IQSSAISVV1000
CACNA1EGVFTFEMVIKMIDQGLILQDGSYFRDLWNI>L<DFVVVVGALVAFALANA-LGTNKGRDIKTI1254
CACNA1FSIFTVEILLKMTVFGAFLHRGSFCRSWFNM>L<DLLVVSVSLISF----G----IHSSAISVV965
CACNA1GAVFLAEMTVKVVALGWCFGEQAYLRSSWNV>L<DGLLVLISVIDILVS-MVSD-SGTKILGML1377
CACNA1HAIFVAEMMVKVVALGLLSGEHAYLQSSWNL>L<DGLLVLVSLVDIVVA-MASA-GGAKILGVL1395
CACNA1IAIFVGEMTLKVVSLGLYFGEQAYLRSSWNV>L<DGFLVFVSIIDIVVS-LASA-GGAKILGVL1271
CACNA1SSVFTVEIVLKMTTYGAFLHKGSFCRNYFNM>L<DLLVVAVSLISM----G----LESSAISVV893
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1274 for SCN5A.