Paralogue Annotation for SCN5A residue 1257

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1257
Reference Amino Acid: K - Lysine
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1257

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AK1270TGeneralized epilepsy with febrile seizures plusHigh9 11756608, 23055484
SCN2AK1260QEpileptic encephalopathy, early infantileHigh9 26993267
SCN2AK1260EEpileptic encephalopathy, early infantileHigh9 26993267

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.



SCN5AIYLEERKTIKVLLEYADKMFTYVFVLEMLL>K<WVAYGF----KKYFTNAWCWLDFLIVDVSL1283
SCN1AIYIDQRKTIKTMLEYADKVFTYIFILEMLL>K<WVAYGY----QTYFTNAWCWLDFLIVDVSL1296
SCN2AIYIEQRKTIKTMLEYADKVFTYIFILEMLL>K<WVAYGF----QVYFTNAWCWLDFLIVDVSL1286
SCN3AIYIEQRKTIKTMLEYADKVFTYIFILEMLL>K<WVAYGF----QTYFTNAWCWLDFLIVDVSL1284
SCN4AIYIEQRRVIRTILEYADKVFTYIFIMEMLL>K<WVAYGF----KVYFTNAWCWLDFLIVDVSI1109
SCN7AIYMDQRKTIKILLEYADMIFTYIFILEMLL>K<WMAYGF----KAYFSNGWYRLDFVVVIVFC1012
SCN8AIYIEQRKTIRTILEYADKVFTYIFILEMLL>K<WTAYGF----VKFFTNAWCWLDFLIVAVSL1276
SCN9AIYIERKKTIKIILEYADKIFTYIFILEMLL>K<WIAYGY----KTYFTNAWCWLDFLIVDVSL1259
SCN10AYYLDQKPTVKALLEYTDRVFTFIFVFEMLL>K<WVAYGF----KKYFTNAWCWLDFLIVNISL1230
SCN11AVHLENQPKIQELLNCTDIIFTHIFILEMVL>K<WVAFGF----GKYFTSAWCCLDFIIVIVSV1134
CACNA1APV-QPNAPRNNVLRYFDYVFTGVFTFEMVI>K<MIDLGLVLHQGAYFRDLWNILDFIVVSGAL1325
CACNA1BPV-RTDSPRNNALKYLDYIFTGVFTFEMVI>K<MIDLGLLLHPGAYFRDLWNILDFIVVSGAL1232
CACNA1CPV-QHTSFRNHILFYFDIVFTTIFTIEIAL>K<MTAYGAFLHKGSFCRNYFNILDLLVVSVSL981
CACNA1DPI-RSHSFRNTILGYFDYAFTAIFTVEILL>K<MTTFGAFLHKGAFCRNYFNLLDMLVVGVSL987
CACNA1EPV-LTNSERNKVLRYFDYVFTGVFTFEMVI>K<MIDQGLILQDGSYFRDLWNILDFVVVVGAL1234
CACNA1FPI-RAHSFRNHILGYFDYAFTSIFTVEILL>K<MTVFGAFLHRGSFCRSWFNMLDLLVVSVSL952
CACNA1GPKIDPHSAERIFLTLSNYIFTAVFLAEMTV>K<VVALGWCFGEQAYLRSSWNVLDGLLVLISV1358
CACNA1HPDIDPGSTERVFLSVSNYIFTAIFVAEMMV>K<VVALGLLSGEHAYLQSSWNLLDGLLVLVSL1376
CACNA1IPQIEAGSTERIFLTVSNYIFTAIFVGEMTL>K<VVSLGLYFGEQAYLRSSWNVLDGFLVFVSI1252
CACNA1SPI-RADSMRNQILKHFDIGFTSVFTVEIVL>K<MTTYGAFLHKGSFCRNYFNMLDLLVVAVSL880
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1257 for SCN5A.