Paralogue Annotation for SCN5A residue 1241

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1241
Reference Amino Acid: Y - Tyrosine
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1241

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AY1254CIntractable epilepsyHigh9 23195492

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.



SCN5AIIFMILLSSGALAFEDIYLEERKTIKVLLE>Y<ADKMFTYVFVLEMLLKWVAYGF----KKYF1267
SCN1AIVFMILLSSGALAFEDIYIDQRKTIKTMLE>Y<ADKVFTYIFILEMLLKWVAYGY----QTYF1280
SCN2AIVFMILLSSGALAFEDIYIEQRKTIKTMLE>Y<ADKVFTYIFILEMLLKWVAYGF----QVYF1270
SCN3AIVFMILLSSGALAFEDIYIEQRKTIKTMLE>Y<ADKVFTYIFILEMLLKWVAYGF----QTYF1268
SCN4AIVFMILLSSGALAFEDIYIEQRRVIRTILE>Y<ADKVFTYIFIMEMLLKWVAYGF----KVYF1093
SCN7AIGLVTLLSTGTLAFEDIYMDQRKTIKILLE>Y<ADMIFTYIFILEMLLKWMAYGF----KAYF996
SCN8AIIFMILLSSGALAFEDIYIEQRKTIRTILE>Y<ADKVFTYIFILEMLLKWTAYGF----VKFF1260
SCN9AIVLMILLSSGALAFEDIYIERKKTIKIILE>Y<ADKIFTYIFILEMLLKWIAYGY----KTYF1243
SCN10AIIFMILLSSGSLAFEDYYLDQKPTVKALLE>Y<TDRVFTFIFVFEMLLKWVAYGF----KKYF1214
SCN11AIIFVILLSSGALIFEDVHLENQPKIQELLN>C<TDIIFTHIFILEMVLKWVAFGF----GKYF1118
CACNA1AILMVIAMSSIALAAEDPV-QPNAPRNNVLR>Y<FDYVFTGVFTFEMVIKMIDLGLVLHQGAYF1309
CACNA1BILVVIALSSIALAAEDPV-RTDSPRNNALK>Y<LDYIFTGVFTFEMVIKMIDLGLLLHPGAYF1216
CACNA1CILFFILLSSISLAAEDPV-QHTSFRNHILF>Y<FDIVFTTIFTIEIALKMTAYGAFLHKGSFC965
CACNA1DILVFIMLSSAALAAEDPI-RSHSFRNTILG>Y<FDYAFTAIFTVEILLKMTTFGAFLHKGAFC971
CACNA1EILLVIAASSIALAAEDPV-LTNSERNKVLR>Y<FDYVFTGVFTFEMVIKMIDQGLILQDGSYF1218
CACNA1FILVFIILSSVSLAAEDPI-RAHSFRNHILG>Y<FDYAFTSIFTVEILLKMTVFGAFLHRGSFC936
CACNA1GVLVIIFLNCITIAMERPKIDPHSAERIFLT>L<SNYIFTAVFLAEMTVKVVALGWCFGEQAYL1342
CACNA1HVLVFIFLNCVTIALERPDIDPGSTERVFLS>V<SNYIFTAIFVAEMMVKVVALGLLSGEHAYL1360
CACNA1IVLAFIFLNCITIALERPQIEAGSTERIFLT>V<SNYIFTAIFVGEMTLKVVSLGLYFGEQAYL1236
CACNA1SILLFILLSSAALAAEDPI-RADSMRNQILK>H<FDIGFTSVFTVEIVLKMTTYGAFLHKGSFC864
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Y1241Sc.3722A>C Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS The genetic basis of long QT and short QT syndromes: a mutation update. Hum Mutat. 2009 30(11):1486-511. 19862833