Paralogue Annotation for SCN5A residue 1252

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1252
Reference Amino Acid: L - Leucine
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1252

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AL1265PMyoclonic epilepsy of infancyHigh9 12083760

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.



SCN5ALAFEDIYLEERKTIKVLLEYADKMFTYVFV>L<EMLLKWVAYGF----KKYFTNAWCWLDFLI1278
SCN1ALAFEDIYIDQRKTIKTMLEYADKVFTYIFI>L<EMLLKWVAYGY----QTYFTNAWCWLDFLI1291
SCN2ALAFEDIYIEQRKTIKTMLEYADKVFTYIFI>L<EMLLKWVAYGF----QVYFTNAWCWLDFLI1281
SCN3ALAFEDIYIEQRKTIKTMLEYADKVFTYIFI>L<EMLLKWVAYGF----QTYFTNAWCWLDFLI1279
SCN4ALAFEDIYIEQRRVIRTILEYADKVFTYIFI>M<EMLLKWVAYGF----KVYFTNAWCWLDFLI1104
SCN7ALAFEDIYMDQRKTIKILLEYADMIFTYIFI>L<EMLLKWMAYGF----KAYFSNGWYRLDFVV1007
SCN8ALAFEDIYIEQRKTIRTILEYADKVFTYIFI>L<EMLLKWTAYGF----VKFFTNAWCWLDFLI1271
SCN9ALAFEDIYIERKKTIKIILEYADKIFTYIFI>L<EMLLKWIAYGY----KTYFTNAWCWLDFLI1254
SCN10ALAFEDYYLDQKPTVKALLEYTDRVFTFIFV>F<EMLLKWVAYGF----KKYFTNAWCWLDFLI1225
SCN11ALIFEDVHLENQPKIQELLNCTDIIFTHIFI>L<EMVLKWVAFGF----GKYFTSAWCCLDFII1129
CACNA1ALAAEDPV-QPNAPRNNVLRYFDYVFTGVFT>F<EMVIKMIDLGLVLHQGAYFRDLWNILDFIV1320
CACNA1BLAAEDPV-RTDSPRNNALKYLDYIFTGVFT>F<EMVIKMIDLGLLLHPGAYFRDLWNILDFIV1227
CACNA1CLAAEDPV-QHTSFRNHILFYFDIVFTTIFT>I<EIALKMTAYGAFLHKGSFCRNYFNILDLLV976
CACNA1DLAAEDPI-RSHSFRNTILGYFDYAFTAIFT>V<EILLKMTTFGAFLHKGAFCRNYFNLLDMLV982
CACNA1ELAAEDPV-LTNSERNKVLRYFDYVFTGVFT>F<EMVIKMIDQGLILQDGSYFRDLWNILDFVV1229
CACNA1FLAAEDPI-RAHSFRNHILGYFDYAFTSIFT>V<EILLKMTVFGAFLHRGSFCRSWFNMLDLLV947
CACNA1GIAMERPKIDPHSAERIFLTLSNYIFTAVFL>A<EMTVKVVALGWCFGEQAYLRSSWNVLDGLL1353
CACNA1HIALERPDIDPGSTERVFLSVSNYIFTAIFV>A<EMMVKVVALGLLSGEHAYLQSSWNLLDGLL1371
CACNA1IIALERPQIEAGSTERIFLTVSNYIFTAIFV>G<EMTLKVVSLGLYFGEQAYLRSSWNVLDGFL1247
CACNA1SLAAEDPI-RADSMRNQILKHFDIGFTSVFT>V<EIVLKMTTYGAFLHKGSFCRNYFNMLDLLV875
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1252 for SCN5A.