Paralogue Annotation for SCN5A residue 1237

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1237
Reference Amino Acid: V - Valine
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1237

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AT1250MGeneralized epilepsy with febrile seizures plusMedium8 19522081, 21719429, 26990884

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.



SCN5AFETFIIFMILLSSGALAFEDIYLEERKTIK>V<LLEYADKMFTYVFVLEMLLKWVAYGF----1263
SCN1AFETFIVFMILLSSGALAFEDIYIDQRKTIK>T<MLEYADKVFTYIFILEMLLKWVAYGY----1276
SCN2AFETFIVFMILLSSGALAFEDIYIEQRKTIK>T<MLEYADKVFTYIFILEMLLKWVAYGF----1266
SCN3AFETFIVFMILLSSGALAFEDIYIEQRKTIK>T<MLEYADKVFTYIFILEMLLKWVAYGF----1264
SCN4AFETFIVFMILLSSGALAFEDIYIEQRRVIR>T<ILEYADKVFTYIFIMEMLLKWVAYGF----1089
SCN7AFKCFIGLVTLLSTGTLAFEDIYMDQRKTIK>I<LLEYADMIFTYIFILEMLLKWMAYGF----992
SCN8AFETFIIFMILLSSGALAFEDIYIEQRKTIR>T<ILEYADKVFTYIFILEMLLKWTAYGF----1256
SCN9AFESFIVLMILLSSGALAFEDIYIERKKTIK>I<ILEYADKIFTYIFILEMLLKWIAYGY----1239
SCN10AFESFIIFMILLSSGSLAFEDYYLDQKPTVK>A<LLEYTDRVFTFIFVFEMLLKWVAYGF----1210
SCN11AFESFIIFVILLSSGALIFEDVHLENQPKIQ>E<LLNCTDIIFTHIFILEMVLKWVAFGF----1114
CACNA1AFEMCILMVIAMSSIALAAEDPV-QPNAPRN>N<VLRYFDYVFTGVFTFEMVIKMIDLGLVLHQ1305
CACNA1BFEVVILVVIALSSIALAAEDPV-RTDSPRN>N<ALKYLDYIFTGVFTFEMVIKMIDLGLLLHP1212
CACNA1CFTNLILFFILLSSISLAAEDPV-QHTSFRN>H<ILFYFDIVFTTIFTIEIALKMTAYGAFLHK961
CACNA1DFTNLILVFIMLSSAALAAEDPI-RSHSFRN>T<ILGYFDYAFTAIFTVEILLKMTTFGAFLHK967
CACNA1EFEMCILLVIAASSIALAAEDPV-LTNSERN>K<VLRYFDYVFTGVFTFEMVIKMIDQGLILQD1214
CACNA1FFTNLILVFIILSSVSLAAEDPI-RAHSFRN>H<ILGYFDYAFTSIFTVEILLKMTVFGAFLHR932
CACNA1GFDHVVLVIIFLNCITIAMERPKIDPHSAER>I<FLTLSNYIFTAVFLAEMTVKVVALGWCFGE1338
CACNA1HFDHVVLVFIFLNCVTIALERPDIDPGSTER>V<FLSVSNYIFTAIFVAEMMVKVVALGLLSGE1356
CACNA1IFDYVVLAFIFLNCITIALERPQIEAGSTER>I<FLTVSNYIFTAIFVGEMTLKVVSLGLYFGE1232
CACNA1SFTNFILLFILLSSAALAAEDPI-RADSMRN>Q<ILKHFDIGFTSVFTVEIVLKMTTYGAFLHK860
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Val1237Ilec.3709G>A UnknownSIFT:
Polyphen: