Paralogue Annotation for SCN5A residue 1263

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1263
Reference Amino Acid: F - Phenylalanine
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1263

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1FA928DNight blindness, congenital stationary, incompleteMedium8 11281458, 14973233

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.



SCN5AKTIKVLLEYADKMFTYVFVLEMLLKWVAYG>F<----KKYFTNAWCWLDFLIVDVSLVSLVAN1289
SCN1AKTIKTMLEYADKVFTYIFILEMLLKWVAYG>Y<----QTYFTNAWCWLDFLIVDVSLVSLTAN1302
SCN2AKTIKTMLEYADKVFTYIFILEMLLKWVAYG>F<----QVYFTNAWCWLDFLIVDVSLVSLTAN1292
SCN3AKTIKTMLEYADKVFTYIFILEMLLKWVAYG>F<----QTYFTNAWCWLDFLIVDVSLVSLVAN1290
SCN4ARVIRTILEYADKVFTYIFIMEMLLKWVAYG>F<----KVYFTNAWCWLDFLIVDVSIISLVAN1115
SCN7AKTIKILLEYADMIFTYIFILEMLLKWMAYG>F<----KAYFSNGWYRLDFVVVIVFCLSLIGK1018
SCN8AKTIRTILEYADKVFTYIFILEMLLKWTAYG>F<----VKFFTNAWCWLDFLIVAVSLVSLIAN1282
SCN9AKTIKIILEYADKIFTYIFILEMLLKWIAYG>Y<----KTYFTNAWCWLDFLIVDVSLVTLVAN1265
SCN10APTVKALLEYTDRVFTFIFVFEMLLKWVAYG>F<----KKYFTNAWCWLDFLIVNISLISLTAK1236
SCN11APKIQELLNCTDIIFTHIFILEMVLKWVAFG>F<----GKYFTSAWCCLDFIIVIVSVTTLI--1138
CACNA1AAPRNNVLRYFDYVFTGVFTFEMVIKMIDLG>L<VLHQGAYFRDLWNILDFIVVSGALVAFAFT1331
CACNA1BSPRNNALKYLDYIFTGVFTFEMVIKMIDLG>L<LLHPGAYFRDLWNILDFIVVSGALVAFAFS1238
CACNA1CSFRNHILFYFDIVFTTIFTIEIALKMTAYG>A<FLHKGSFCRNYFNILDLLVVSVSLISF---984
CACNA1DSFRNTILGYFDYAFTAIFTVEILLKMTTFG>A<FLHKGAFCRNYFNLLDMLVVGVSLVSF---990
CACNA1ESERNKVLRYFDYVFTGVFTFEMVIKMIDQG>L<ILQDGSYFRDLWNILDFVVVVGALVAFALA1240
CACNA1FSFRNHILGYFDYAFTSIFTVEILLKMTVFG>A<FLHRGSFCRSWFNMLDLLVVSVSLISF---955
CACNA1GSAERIFLTLSNYIFTAVFLAEMTVKVVALG>W<CFGEQAYLRSSWNVLDGLLVLISVIDILVS1364
CACNA1HSTERVFLSVSNYIFTAIFVAEMMVKVVALG>L<LSGEHAYLQSSWNLLDGLLVLVSLVDIVVA1382
CACNA1ISTERIFLTVSNYIFTAIFVGEMTLKVVSLG>L<YFGEQAYLRSSWNVLDGFLVFVSIIDIVVS1258
CACNA1SSMRNQILKHFDIGFTSVFTVEIVLKMTTYG>A<FLHKGSFCRNYFNMLDLLVVAVSLISM---883
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1263 for SCN5A.